[1], [2], [3], [4], [5], [6], [7], [8], [9], [10], [11], [12], [13], [14], [15], [16], [17], [18], [19], [20], [21], [22], [23], [24], [25], [26], [27], [28], [29], [30], [31], [32], [33], [34], [35], [36], [37], [38], [39], [40], [41], [42], [43], [44], [45], [46], [47], [48], [49], [50], [51], [52], [53], [54], [55], [56], [57], [58], [59], [60], [61], [62], [63], [64], [65], [66], [67], [68], [69], [70], [71], [72], [73], [74], [75], [76], [77], [78], [79], [80], [81], [82], [83], [84], [85], [86], [87], [88], [89], [90], [91], [92], [93], [94], [95], [96], [97], [98], [99], [100], [101], [102], [103], [104], [105], [106], [107], [108], [109], [110], [111], [112], [113], [114], [115], [116], [117], [118], [119], [120], [121], [122], [123], [124], [125], [126]
[1] C.E. Kashtan, Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes., Medicine (Baltimore). 78 (1999) 338–60. http://www.ncbi.nlm.nih.gov/pubmed/10499074 (accessed October 24, 2017).
[2] J. Kruegel, D. Rubel, O. Gross, Alport syndrome—insights from basic and clinical research, Nat. Rev. Nephrol. 9 (2012) 170–178. doi:10.1038/nrneph.2012.259.
[3] C.E. Kashtan, Alport Syndrome and Thin Basement Membrane Nephropathy, University of Washington, Seattle, 1993. http://www.ncbi.nlm.nih.gov/pubmed/20301386 (accessed October 24, 2017).
[4] T. Gardeitchik, M. Mohamed, B. Fischer, M. Lammens, D. Lefeber, B. Lace, M. Parker, K.-J. Kim, B.C. Lim, J. Häberle, L. Garavelli, S. Jagadeesh, A. Kariminejad, D. Guerra, M. Leão, R. Keski-Filppula, H. Brunner, L. Nijtmans, B. van den Heuvel, R. Wevers, U. Kornak, E. Morava, Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa., Eur. J. Hum. Genet. 22 (2014) 888–95. doi:10.1038/ejhg.2013.154.
[5] B. Callewaert, M. Renard, V. Hucthagowder, B. Albrecht, I. Hausser, E. Blair, C. Dias, A. Albino, H. Wachi, F. Sato, R.P. Mecham, B. Loeys, P.J. Coucke, A. De Paepe, Z. Urban, New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations., Hum. Mutat. 32 (2011) 445–55. doi:10.1002/humu.21462.
[6] B. Fischer, A. Dimopoulou, J. Egerer, T. Gardeitchik, A. Kidd, D. Jost, H. Kayserili, Y. Alanay, I. Tantcheva-Poor, E. Mangold, C. Daumer-Haas, S. Phadke, R.I. Peirano, J. Heusel, C. Desphande, N. Gupta, A. Nanda, E. Felix, E. Berry-Kravis, M. Kabra, R.A. Wevers, L. van Maldergem, S. Mundlos, E. Morava, U. Kornak, Further characterization of ATP6V0A2-related autosomal recessive cutis laxa, Hum. Genet. 131 (2012) 1761–1773. doi:10.1007/s00439-012-1197-8.
[7] M. Renard, T. Holm, R. Veith, B.L. Callewaert, L.C. Adès, O. Baspinar, A. Pickart, M. Dasouki, J. Hoyer, A. Rauch, P. Trapane, M.G. Earing, P.J. Coucke, L.Y. Sakai, H.C. Dietz, A.M. De Paepe, B.L. Loeys, Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency, Eur. J. Hum. Genet. 18 (2010) 895–901. doi:10.1038/ejhg.2010.45.
[8] B. Callewaert, C.-T. Su, T. Van Damme, P. Vlummens, F. Malfait, O. Vanakker, B. Schulz, M. Mac Neal, E.C. Davis, J.G.H. Lee, A. Salhi, S. Unger, K. Heimdal, S. De Almeida, U. Kornak, H. Gaspar, J.-L. Bresson, K. Prescott, M.E. Gosendi, S. Mansour, G.E. Piérard, S. Madan-Khetarpal, F.C. Sciurba, S. Symoens, P.J. Coucke, L. Van Maldergem, Z. Urban, A. De Paepe, Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa, Hum. Mutat. 34 (2013) 111–121. doi:10.1002/humu.22165.
[9] F. Malfait, C. Francomano, P. Byers, J. Belmont, B. Berglund, J. Black, L. Bloom, J.M. Bowen, A.F. Brady, N.P. Burrows, M. Castori, H. Cohen, M. Colombi, S. Demirdas, J. De Backer, A. De Paepe, S. Fournel-Gigleux, M. Frank, N. Ghali, C. Giunta, R. Grahame, A. Hakim, X. Jeunemaitre, D. Johnson, B. Juul-Kristensen, I. Kapferer-Seebacher, H. Kazkaz, T. Kosho, M.E. Lavallee, H. Levy, R. Mendoza-Londono, M. Pepin, F.M. Pope, E. Reinstein, L. Robert, M. Rohrbach, L. Sanders, G.J. Sobey, T. Van Damme, A. Vandersteen, C. van Mourik, N. Voermans, N. Wheeldon, J. Zschocke, B. Tinkle, The 2017 international classification of the Ehlers-Danlos syndromes, Am. J. Med. Genet. Part C Semin. Med. Genet. 175 (2017) 8–26. doi:10.1002/ajmg.c.31552.
[10] Ehlers-Danlos Syndrome: National Library of Medicine (US)., Genet. Home Ref. (2015). https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome(accessed November 1, 2017).
[11] F. Malfait, R. Wenstrup, A. De Paepe, Ehlers-Danlos Syndrome, Classic Type, University of Washington, Seattle, 1993. http://www.ncbi.nlm.nih.gov/pubmed/20301422 (accessed October 31, 2017).
[12] C. Giunta, A. Randolph, B. Steinmann, Mutation analysis of the PLOD1 gene: An efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA), Mol. Genet. Metab. 86 (2005) 269–276. doi:10.1016/J.YMGME.2005.04.014.
[13] T.E. Paterick, J.A. Humphries, K.A. Ammar, M.F. Jan, R. Loberg, M. Bush, B.K. Khandheria, A.J. Tajik, Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management, Am J Med. 126 (2013) 670–678. doi:10.1016/j.amjmed.2013.01.029.
[14] B.L. Loeys, H.C. Dietz, Loeys-Dietz Syndrome, in: R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.T. Fong, H.C. Mefford, R.J.H. Smith, K. Stephens (Eds.), GeneReviews(R), University of Washington, SeattleUniversity of Washington, Seattle. All rights reserved., Seattle (WA), 1993.
[15] A.M. Bertoli-Avella, E. Gillis, H. Morisaki, B.L. Loeys, Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections, J. Am. Coll. Cardiol. 65 (2015) 1324–1336. doi:10.1016/J.JACC.2015.01.040.
[16] B.L. Loeys, H.C. Dietz, A.C. Braverman, B.L. Callewaert, J. De Backer, R.B. Devereux, Y. Hilhorst-Hofstee, G. Jondeau, L. Faivre, D.M. Milewicz, R.E. Pyeritz, P.D. Sponseller, P. Wordsworth, A.M. De Paepe, The revised Ghent nosology for the Marfan syndrome, J Med Genet. 47 (2010) 476–485. doi:10.1136/jmg.2009.072785.
[17] H.C. Dietz, Marfan Syndrome, in: R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.T. Fong, H.C. Mefford, R.J.H. Smith, K. Stephens (Eds.), GeneReviews(R), University of Washington, SeattleUniversity of Washington, Seattle. All rights reserved., Seattle (WA), 1993.
[18] J. Körkkö, I. Kaitila, L. Lönnqvist, L. Peltonen, L. Ala-Kokko, Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions., J. Med. Genet. 39 (2002) 34–41. http://www.ncbi.nlm.nih.gov/pubmed/11826022 (accessed November 2, 2017).
[19] B.L. Callewaert, B.L. Loeys, A. Ficcadenti, S. Vermeer, M. Landgren, H.Y. Kroes, Y. Yaron, M. Pope, N. Foulds, O. Boute, F. Galán, H. Kingston, N. Van der Aa, I. Salcedo, M.E. Swinkels, C. Wallgren-Pettersson, O. Gabrielli, J. De Backer, P.J. Coucke, A.M. De Paepe, Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature, Hum. Mutat. 30 (2009) 334–341. doi:10.1002/humu.20854.
[20] E. Tsilou, I.M. MacDonald, Weill-Marchesani Syndrome, University of Washington, Seattle, 1993. http://www.ncbi.nlm.nih.gov/pubmed/20301293(accessed November 2, 2017).
[21] N. Dagoneau, C. Benoist-Lasselin, C. Huber, L. Faivre, A. Mégarbané, A. Alswaid, H. Dollfus, Y. Alembik, A. Munnich, L. Legeai-Mallet, V. Cormier-Daire, ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome, Am. J. Hum. Genet. 75 (2004) 801–806. doi:10.1086/425231.
[22] J.M. Statland, R. Tawil, S.L. Venance, Andersen-Tawil Syndrome, University of Washington, Seattle, 1993. http://www.ncbi.nlm.nih.gov/pubmed/20301441 (accessed November 2, 2017).
[23] Andersen-Tawil syndrome: National Library of Medicine (US)., Genet. Home Ref. (2006). https://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome(accessed November 2, 2017).
[24] J.D. Kapplinger, D.J. Tester, B.A. Salisbury, J.L. Carr, C. Harris-Kerr, G.D. Pollevick, A.A. Wilde, M.J. Ackerman, Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test, Hear. Rhythm. 6 (2009) 1297–1303. doi:10.1016/j.hrthm.2009.05.021.
[25] M.J. Perrin, M.H. Gollob, Genetics of cardiac electrical disease, Can J Cardiol. 29 (2013) 89–99. doi:10.1016/j.cjca.2012.07.847.
[26] J.D. Kapplinger, D.J. Tester, M. Alders, B. Benito, M. Berthet, J. Brugada, P. Brugada, V. Fressart, A. Guerchicoff, C. Harris-Kerr, S. Kamakura, F. Kyndt, T.T. Koopmann, Y. Miyamoto, R. Pfeiffer, G.D. Pollevick, V. Probst, S. Zumhagen, M. Vatta, J.A. Towbin, W. Shimizu, E. Schulze-Bahr, C. Antzelevitch, B.A. Salisbury, P. Guicheney, A.A. Wilde, R. Brugada, J.J. Schott, M.J. Ackerman, An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing, Hear. Rhythm. 7 (2010) 33–46. doi:10.1016/j.hrthm.2009.09.069.
[27] D.A. Spears, M.H. Gollob, Genetics of inherited primary arrhythmia disorders, Appl Clin Genet. 8 (2015) 215–233. doi:10.2147/tacg.s55762.
[28] M.J. Ackerman, S.G. Priori, S. Willems, C. Berul, R. Brugada, H. Calkins, A.J. Camm, P.T. Ellinor, M. Gollob, R. Hamilton, R.E. Hershberger, D.P. Judge, H. Le Marec, W.J. McKenna, E. Schulze-Bahr, C. Semsarian, J.A. Towbin, H. Watkins, A. Wilde, C. Wolpert, D.P. Zipes, HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA), Hear. Rhythm. 8 (2011) 1308–1339. doi:10.1016/j.hrthm.2011.05.020.
[29] R. Brugada, O. Campuzano, P. Brugada, J. Brugada, K. Hong, Brugada Syndrome, in: R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.T. Fong, H.C. Mefford, R.J.H. Smith, K. Stephens (Eds.), GeneReviews(R), University of Washington, SeattleUniversity of Washington, Seattle. All rights reserved., Seattle (WA), 1993.
[30] C. Napolitano, S.G. Priori, R. Bloise, Catecholaminergic Polymorphic Ventricular Tachycardia, in: R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.T. Fong, H.C. Mefford, R.J.H. Smith, K. Stephens (Eds.), GeneReviews(R), University of Washington, SeattleUniversity of Washington, Seattle. All rights reserved., Seattle (WA), 1993.
[31] S.G. Priori, C. Napolitano, M. Memmi, B. Colombi, F. Drago, M. Gasparini, L. DeSimone, F. Coltorti, R. Bloise, R. Keegan, F.E. Cruz Filho, G. Vignati, A. Benatar, A. DeLogu, Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia, Circulation. 106 (2002) 69–74.
[32] Y. Mizusawa, M. Horie, A.A. Wilde, Genetic and clinical advances in congenital long QT syndrome, Circ J. 78 (2014) 2827–2833.
[33] C. Napolitano, S.G. Priori, P.J. Schwartz, R. Bloise, E. Ronchetti, J. Nastoli, G. Bottelli, M. Cerrone, S. Leonardi, Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice, Jama. 294 (2005) 2975–2980. doi:10.1001/jama.294.23.2975.
[34] E. McNally, H. MacLeod, L. Dellefave-Castillo, Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, in: R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.T. Fong, H.C. Mefford, R.J.H. Smith, K. Stephens (Eds.), GeneReviews(R), University of Washington, SeattleUniversity of Washington, Seattle. All rights reserved., Seattle (WA), 1993.
[35] F.I. Marcus, W.J. McKenna, D. Sherrill, C. Basso, B. Bauce, D.A. Bluemke, H. Calkins, D. Corrado, M.G. Cox, J.P. Daubert, G. Fontaine, K. Gear, R. Hauer, A. Nava, M.H. Picard, N. Protonotarios, J.E. Saffitz, D.M. Sanborn, J.S. Steinberg, H. Tandri, G. Thiene, J.A. Towbin, A. Tsatsopoulou, T. Wichter, W. Zareba, Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria, Eur Hear. J. 31 (2010) 806–814. doi:10.1093/eurheartj/ehq025.
[36] M.G. Cox, P.A. van der Zwaag, C. van der Werf, J.J. van der Smagt, M. Noorman, Z.A. Bhuiyan, A.C. Wiesfeld, P.G. Volders, I.M. van Langen, D.E. Atsma, D. Dooijes, A. van den Wijngaard, A.C. Houweling, J.D. Jongbloed, L. Jordaens, M.J. Cramer, P.A. Doevendans, J.M. de Bakker, A.A. Wilde, J.P. van Tintelen, R.N. Hauer, Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study, Circulation. 123 (2011) 2690–2700. doi:10.1161/circulationaha.110.988287.
[37] P. Teekakirikul, M.A. Kelly, H.L. Rehm, N.K. Lakdawala, B.H. Funke, Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era, J Mol Diagn. 15 (2013) 158–170. doi:10.1016/j.jmoldx.2012.09.002.
[38] E.M. McNally, J.R. Golbus, M.J. Puckelwartz, Genetic mutations and mechanisms in dilated cardiomyopathy, J Clin Invest. 123 (2013) 19–26. doi:10.1172/jci62862.
[39] T.J. Pugh, M.A. Kelly, S. Gowrisankar, E. Hynes, M.A. Seidman, S. Baxter, M. Bowser, B. Harrison, D. Aaron, L.M. Mahanta, N.K. Lakdawala, G. McDermott, E.T. White, H.L. Rehm, M. Lebo, B.H. Funke, The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing, Genet. Med. 16 (2014) 601–608.
[40] A.L. Cirino, C. Ho, Hypertrophic Cardiomyopathy Overview, in: R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.T. Fong, H.C. Mefford, R.J.H. Smith, K. Stephens (Eds.), GeneReviews(R), University of Washington, SeattleUniversity of Washington, Seattle. All rights reserved., Seattle (WA), 1993.
[41] A.A. Alfares, M.A. Kelly, G. McDermott, B.H. Funke, M.S. Lebo, S.B. Baxter, J. Shen, H.M. McLaughlin, E.H. Clark, L.J. Babb, S.W. Cox, S.R. DePalma, C.Y. Ho, J.G. Seidman, C.E. Seidman, H.L. Rehm, Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity, Genet Med. 17 (2015) 880–888. doi:10.1038/gim.2014.205.
[42] J. Ingles, T. Sarina, L. Yeates, L. Hunt, I. Macciocca, L. McCormack, I. Winship, J. McGaughran, J. Atherton, C. Semsarian, Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy, Genet Med. 15 (2013) 972–977. doi:10.1038/gim.2013.44.
[43] S. Gati, R. Rajani, G.S. Carr-White, J.B. Chambers, Adult left ventricular noncompaction: reappraisal of current diagnostic imaging modalities, JACC Cardiovasc Imaging. 7 (2014) 1266–1275. doi:10.1016/j.jcmg.2014.09.005.
[44] J. Finsterer, Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction, Pediatr Cardiol. 30 (2009) 659–681. doi:10.1007/s00246-008-9359-0.
[45] L.R. Lopes, P.M. Elliott, A straightforward guide to the sarcomeric basis of cardiomyopathies, Heart. 100 (2014) 1916–1923. doi:10.1136/heartjnl-2014-305645.
[46] E. Youngblom, J.W. Knowles, Familial Hypercholesterolemia, in: R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.T. Fong, H.C. Mefford, R.J.H. Smith, K. Stephens (Eds.), GeneReviews(R), University of Washington, SeattleUniversity of Washington, Seattle. All rights reserved., Seattle (WA), 1993.
[47] N.B. Spinner, L.D. Leonard, I.D. Krantz, Alagille Syndrome, in: R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.T. Fong, H.C. Mefford, R.J.H. Smith, K. Stephens (Eds.), GeneReviews(R), University of Washington, SeattleUniversity of Washington, Seattle. All rights reserved., Seattle (WA), 1993.
[48] D.M. Warthen, E.C. Moore, B.M. Kamath, J.J. Morrissette, P.A. Sanchez-Lara, D.A. Piccoli, I.D. Krantz, N.B. Spinner, Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate, Hum Mutat. 27 (2006) 436–443. doi:10.1002/humu.20310.
[49] C.A. Stratakis, P. Salpea, M. Raygada, Carney Complex, in: R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.T. Fong, H.C. Mefford, R.J.H. Smith, K. Stephens (Eds.), GeneReviews(R), University of Washington, SeattleUniversity of Washington, Seattle. All rights reserved., Seattle (WA), 1993.
[50] J. Bertherat, A. Horvath, L. Groussin, S. Grabar, S. Boikos, L. Cazabat, R. Libe, F. Rene-Corail, S. Stergiopoulos, I. Bourdeau, T. Bei, E. Clauser, A. Calender, L.S. Kirschner, X. Bertagna, J.A. Carney, C.A. Stratakis, Mutations in regulatory subunit type 1A of cyclic adenosine 5’-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes, J Clin Endocrinol Metab. 94 (2009) 2085–2091. doi:10.1210/jc.2008-2333.
[51] M.J. Sutherland, S.M. Ware, Disorders of left-right asymmetry: Heterotaxy and situs inversus, Am. J. Med. Genet. Part C Semin. Med. Genet. 151C (2009) 307–317. doi:10.1002/ajmg.c.30228.
[52] D.A. McDermott, J.C. Fong, C.T. Basson, Holt-Oram Syndrome, in: R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.T. Fong, H.C. Mefford, R.J.H. Smith, K. Stephens (Eds.), GeneReviews(R), University of Washington, SeattleUniversity of Washington, Seattle. All rights reserved., Seattle (WA), 1993.
[53] D.A. McDermott, M.C. Bressan, J. He, J.S. Lee, S. Aftimos, M. Brueckner, F. Gilbert, G.E. Graham, M.C. Hannibal, J.W. Innis, M.E. Pierpont, A. Raas-Rothschild, A.L. Shanske, W.E. Smith, R.H. Spencer, M.G. St John-Sutton, L. van Maldergem, D.J. Waggoner, M. Weber, C.T. Basson, TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome, Pediatr Res. 58 (2005) 981–986. doi:10.1203/01.pdr.0000182593.95441.64.
[54] X.Y. Liu, J. Wang, Y.Q. Yang, Y.Y. Zhang, X.Z. Chen, W. Zhang, X.Z. Wang, J.H. Zheng, Y.H. Chen, Novel NKX2-5 mutations in patients with familial atrial septal defects, Pediatr Cardiol. 32 (2011) 193–201. doi:10.1007/s00246-010-9859-6.
[55] A.J. Rein, R. Sheffer, Genetics of conotruncal malformations: further evidence of autosomal recessive inheritance, Am J Med Genet. 50 (1994) 302–303. doi:10.1002/ajmg.1320500317.
[56] J.E. Allanson, A.E. Roberts, Noonan Syndrome, in: R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.T. Fong, H.C. Mefford, R.J.H. Smith, K. Stephens (Eds.), GeneReviews(R), University of Washington, SeattleUniversity of Washington, Seattle. All rights reserved., Seattle (WA), 1993.
[57] A.E. Roberts, T. Araki, K.D. Swanson, K.T. Montgomery, T.A. Schiripo, V.A. Joshi, L. Li, Y. Yassin, A.M. Tamburino, B.G. Neel, R.S. Kucherlapati, Germline gain-of-function mutations in SOS1 cause Noonan syndrome, Nat Genet. 39 (2007) 70–74. doi:10.1038/ng1926.
[58] M. Tartaglia, L.A. Pennacchio, C. Zhao, K.K. Yadav, V. Fodale, A. Sarkozy, B. Pandit, K. Oishi, S. Martinelli, W. Schackwitz, A. Ustaszewska, J. Martin, J. Bristow, C. Carta, F. Lepri, C. Neri, I. Vasta, K. Gibson, C.J. Curry, J.P. Siguero, M.C. Digilio, G. Zampino, B. Dallapiccola, D. Bar-Sagi, B.D. Gelb, Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome, Nat Genet. 39 (2007) 75–79. doi:10.1038/ng1939.
[59] A. Sarkozy, C. Carta, S. Moretti, G. Zampino, M.C. Digilio, F. Pantaleoni, A.P. Scioletti, G. Esposito, V. Cordeddu, F. Lepri, V. Petrangeli, M.L. Dentici, G.M. Mancini, A. Selicorni, C. Rossi, L. Mazzanti, B. Marino, G.B. Ferrero, M.C. Silengo, L. Memo, F. Stanzial, F. Faravelli, L. Stuppia, E. Puxeddu, B.D. Gelb, B. Dallapiccola, M. Tartaglia, Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum, Hum Mutat. 30 (2009) 695–702. doi:10.1002/humu.20955.
[60] C. Nava, N. Hanna, C. Michot, S. Pereira, N. Pouvreau, T. Niihori, Y. Aoki, Y. Matsubara, B. Arveiler, D. Lacombe, E. Pasmant, B. Parfait, C. Baumann, D. Heron, S. Sigaudy, A. Toutain, M. Rio, A. Goldenberg, B. Leheup, A. Verloes, H. Cave, Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome, J Med Genet. 44 (2007) 763–771. doi:10.1136/jmg.2007.050450.
[61] J. Kohlhase, SALL4-Related Disorders, in: R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.T. Fong, H.C. Mefford, R.J.H. Smith, K. Stephens (Eds.), GeneReviews(R), University of Washington, SeattleUniversity of Washington, Seattle. All rights reserved., Seattle (WA), 1993.
[62] W. Borozdin, D. Boehm, M. Leipoldt, C. Wilhelm, W. Reardon, J. Clayton-Smith, K. Becker, H. Muhlendyck, R. Winter, O. Giray, F. Silan, J. Kohlhase, SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism, J Med Genet. 41 (2004) e113. doi:10.1136/jmg.2004.019901.
[63] W. Borozdin, J.M. Graham Jr., D. Bohm, M.J. Bamshad, S. Spranger, L. Burke, M. Leipoldt, J. Kohlhase, Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay, Hum Mutat. 28 (2007) 830. doi:10.1002/humu.9502.
[64] J.R. Toro, Birt-Hogg-Dubé Syndrome, University of Washington, Seattle, 1993. http://www.ncbi.nlm.nih.gov/pubmed/20301695 (accessed November 8, 2017).
[65] L.S. Schmidt, M.L. Nickerson, M.B. Warren, G.M. Glenn, J.R. Toro, M.J. Merino, M.L. Turner, P.L. Choyke, N. Sharma, J. Peterson, P. Morrison, E.R. Maher, M.M. Walther, B. Zbar, W.M. Linehan, Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome., Am. J. Hum. Genet. 76 (2005) 1023–33. doi:10.1086/430842.
[66] J.R. Toro, M.-H. Wei, G.M. Glenn, M. Weinreich, O. Toure, C. Vocke, M. Turner, P. Choyke, M.J. Merino, P.A. Pinto, S.M. Steinberg, L.S. Schmidt, W.M. Linehan, BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports., J. Med. Genet. 45 (2008) 321–31. doi:10.1136/jmg.2007.054304.
[67] M. Kunogi, M. Kurihara, T.S. Ikegami, T. Kobayashi, N. Shindo, T. Kumasaka, Y. Gunji, M. Kikkawa, S. Iwakami, O. Hino, K. Takahashi, K. Seyama, Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature., J. Med. Genet. 47 (2010) 281–7. doi:10.1136/jmg.2009.070565.
[68] P. Bayrak-Toydemir, D. Stevenson, RASA1-Related Disorders, University of Washington, Seattle, 1993. http://www.ncbi.nlm.nih.gov/pubmed/21348050(accessed November 8, 2017).
[69] I. Eerola, L.M. Boon, J.B. Mulliken, P.E. Burrows, A. Dompmartin, S. Watanabe, R. Vanwijck, M. Vikkula, Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations, Am. J. Hum. Genet. 73 (2003) 1240–1249. doi:10.1086/379793.
[70] N. Revencu, L.M. Boon, A. Mendola, M.R. Cordisco, J. Dubois, P. Clapuyt, F. Hammer, D.J. Amor, A.D. Irvine, E. Baselga, A. Dompmartin, S. Syed, A. Martin-Santiago, L. Ades, F. Collins, J. Smith, S. Sandaradura, V.R. Barrio, P.E. Burrows, F. Blei, M. Cozzolino, N. Brunetti-Pierri, A. Vicente, M. Abramowicz, J. Désir, C. Vilain, W.K. Chung, A. Wilson, C.A. Gardiner, Y. Dwight, D.J.E. Lord, L. Fishman, C. Cytrynbaum, S. Chamlin, F. Ghali, Y. Gilaberte, S. Joss, M. del C. Boente, C. Léauté-Labrèze, M.-A. Delrue, S. Bayliss, L. Martorell, M.-A. González-Enseñat, J. Mazereeuw-Hautier, B. O’Donnell, D. Bessis, R.E. Pyeritz, A. Salhi, O.T. Tan, O. Wargon, J.B. Mulliken, M. Vikkula, RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation, Hum. Mutat. 34 (2013) 1632–1641. doi:10.1002/humu.22431.
[71] N. Revencu, L.M. Boon, J.B. Mulliken, O. Enjolras, M.R. Cordisco, P.E. Burrows, P. Clapuyt, F. Hammer, J. Dubois, E. Baselga, F. Brancati, R. Carder, J.M.C. Quintal, B. Dallapiccola, G. Fischer, I.J. Frieden, M. Garzon, J. Harper, J. Johnson-Patel, C. Labrèze, L. Martorell, H.J. Paltiel, A. Pohl, J. Prendiville, I. Quere, D.H. Siegel, E.M. Valente, A. Van Hagen, L. Van Hest, K.K. Vaux, A. Vicente, L. Weibel, D. Chitayat, M. Vikkula, Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations, Hum. Mutat. 29 (2008) 959–965. doi:10.1002/humu.20746.
[72] J. McDonald, R.E. Pyeritz, Hereditary Hemorrhagic Telangiectasia, University of Washington, Seattle, 1993. http://www.ncbi.nlm.nih.gov/pubmed/20301525 (accessed November 8, 2017).
[73] Homocystinuria: National Library of Medicine (US)., Genet. Home Ref. (2017). https://ghr.nlm.nih.gov/condition/homocystinuria (accessed November 8, 2017).
[74] W.D. Kruger, L. Wang, K.H. Jhee, R.H. Singh, L.J. Elsas, Cystathionine?-synthase deficiency in Georgia (USA): Correlation of clinical and biochemical phenotype with genotype, Hum. Mutat. 22 (2003) 434–441. doi:10.1002/humu.10290.
[75] M. Gaustadnes, B. Wilcken, J. Oliveriusova, J. McGill, J. Fletcher, J.P. Kraus, D.E. Wilcken, The molecular basis of cystathionine ?-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatment, Hum. Mutat. 20 (2002) 117–126. doi:10.1002/humu.10104.
[76] P.C. Neves, M. Guerra, P. Ponce, J. Miranda, L. Vouga, Non-cystic fibrosis bronchiectasis, Interact. Cardiovasc. Thorac. Surg. 13 (2011) 619–625. doi:10.1510/icvts.2011.284208.
[77] R. Hjeij, A. Lindstrand, R. Francis, M. Zariwala, X. Liu, Y. Li, R. Damerla, G. Dougherty, M. Abouhamed, H. Olbrich, N. Loges, P. Pennekamp, E. Davis, C.B. Carvalho, D. Pehlivan, C. Werner, J. Raidt, G. K?hler, K. H?ffner, M. Reyes-Mugica, J. Lupski, M. Leigh, M. Rosenfeld, L. Morgan, M. Knowles, C. Lo, N. Katsanis, H. Omran, ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry, Am. J. Hum. Genet. 93 (2013) 357–367. doi:10.1016/j.ajhg.2013.06.009.
[78] C. Austin-Tse, J. Halbritter, M.A. Zariwala, R.M. Gilberti, H.Y. Gee, N. Hellman, N. Pathak, Y. Liu, J.R. Panizzi, R.S. Patel-King, D. Tritschler, R. Bower, E. O’Toole, J.D. Porath, T.W. Hurd, M. Chaki, K.A. Diaz, S. Kohl, S. Lovric, D.-Y. Hwang, D.A. Braun, M. Schueler, R. Airik, E.A. Otto, M.W. Leigh, P.G. Noone, J.L. Carson, S.D. Davis, J.E. Pittman, T.W. Ferkol, J.J. Atkinson, K.N. Olivier, S.D. Sagel, S.D. Dell, M. Rosenfeld, C.E. Milla, N.T. Loges, H. Omran, M.E. Porter, S.M. King, M.R. Knowles, I.A. Drummond, F. Hildebrandt, Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia, Am. J. Hum. Genet. 93 (2013) 672–686. doi:10.1016/j.ajhg.2013.08.015.
[79] J.R. Panizzi, A. Becker-Heck, V.H. Castleman, D.A. Al-Mutairi, Y. Liu, N.T. Loges, N. Pathak, C. Austin-Tse, E. Sheridan, M. Schmidts, H. Olbrich, C. Werner, K. H?ffner, N. Hellman, R. Chodhari, A. Gupta, A. Kramer-Zucker, F. Olale, R.D. Burdine, A.F. Schier, C. O’Callaghan, E.M.K. Chung, R. Reinhardt, H.M. Mitchison, S.M. King, H. Omran, I.A. Drummond, CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms, Nat. Genet. 44 (2012) 714–719. doi:10.1038/ng.2277.
[80] M. Knowles, M. Leigh, L. Ostrowski, L. Huang, J. Carson, M. Hazucha, W. Yin, J. Berg, S. Davis, S. Dell, T. Ferkol, M. Rosenfeld, S. Sagel, C. Milla, K. Olivier, E. Turner, A. Lewis, M. Bamshad, D. Nickerson, J. Shendure, M. Zariwala, Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia, Am. J. Hum. Genet. 92 (2013) 99–106. doi:10.1016/j.ajhg.2012.11.003.
[81] R. Hjeij, A. Onoufriadis, C. Watson, C. Slagle, N. Klena, G. Dougherty, M. Kurkowiak, N. Loges, C. Diggle, N.C. Morante, G. Gabriel, K. Lemke, Y. Li, P. Pennekamp, T. Menchen, F. Konert, J. Marthin, D. Mans, S.F. Letteboer, C. Werner, T. Burgoyne, C. Westermann, A. Rutman, I. Carr, C. O?Callaghan, E. Moya, E.K. Chung, E. Sheridan, K. Nielsen, R. Roepman, K. Bartscherer, R. Burdine, C. Lo, H. Omran, H. Mitchison, H.M. Mitchison, CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation, Am. J. Hum. Genet. 95 (2014) 257–274. doi:10.1016/j.ajhg.2014.08.005.
[82] S. Blanchon, M. Legendre, B. Copin, P. Duquesnoy, G. Montantin, E. Kott, F. Dastot, L. Jeanson, M. Cachanado, A. Rousseau, J.F. Papon, N. Beydon, J. Brouard, B. Crestani, A. Deschildre, J. D?sir, H. Dollfus, B. Leheup, A. Tamalet, C. Thumerelle, A.-M. Vojtek, D. Escalier, A. Coste, J. de Blic, A. Cl?ment, E. Escudier, S. Amselem, Delineation of CCDC39/CCDC40mutation spectrum and associated phenotypes in primary ciliary dyskinesia, J. Med. Genet. 49 (2012) 410–416. doi:10.1136/jmedgenet-2012-100867.
[83] R.H. Kim, D. A. Hall, E. Cutz, M.R. Knowles, K.A. Nelligan, K. Nykamp, M.A. Zariwala, S.D. Dell, The Role of Molecular Genetic Analysis in the Diagnosis of Primary Ciliary Dyskinesia, Ann. Am. Thorac. Soc. 11 (2014) 351–359. doi:10.1513/AnnalsATS.201306-194OC.
[84] J. Wallmeier, D.A. Al-Mutairi, C.-T. Chen, N.T. Loges, P. Pennekamp, T. Menchen, L. Ma, H.E. Shamseldin, H. Olbrich, G.W. Dougherty, C. Werner, B.H. Alsabah, G. Köhler, M. Jaspers, M. Boon, M. Griese, S. Schmitt-Grohé, T. Zimmermann, C. Koerner-Rettberg, E. Horak, C. Kintner, F.S. Alkuraya, H. Omran, Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia, Nat. Genet. 46 (2014) 646–651. doi:10.1038/ng.2961.
[85] E. Kott, P. Duquesnoy, B. Copin, M. Legendre, F. Dastot-Le?Moal, G. Montantin, L. Jeanson, A. Tamalet, J.-F. Papon, J.-P. Siffroi, N. Rives, V. Mitchell, J. de?Blic, A. Coste, A. Clement, D. Escalier, A. Tour?, E. Escudier, S. Amselem, Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia, Am. J. Hum. Genet. 91 (2012) 958–964. doi:10.1016/j.ajhg.2012.10.003.
[86] H.M. Mitchison, M. Schmidts, N.T. Loges, J. Freshour, A. Dritsoula, R.A. Hirst, C. O’Callaghan, H. Blau, M. Al Dabbagh, H. Olbrich, P.L. Beales, T. Yagi, H. Mussaffi, E.M.K. Chung, H. Omran, D.R. Mitchell, Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia, Nat. Genet. 44 (2012) 381–389. doi:10.1038/ng.1106.
[87] M.R. Knowles, M.W. Leigh, J.L. Carson, S.D. Davis, S.D. Dell, T.W. Ferkol, K.N. Olivier, S.D. Sagel, M. Rosenfeld, K.A. Burns, S.L. Minnix, M.C. Armstrong, A. Lori, M.J. Hazucha, N.T. Loges, H. Olbrich, A. Becker-Heck, M. Schmidts, C. Werner, H. Omran, M.A. Zariwala, Genetic Disorders of Mucociliary Clearance Consortium, Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure, Thorax. 67 (2012) 433–441. doi:10.1136/thoraxjnl-2011-200301.
[88] J. Djakow, T. Svobodov?, K. Hrach, J. Uhl?k, O. Cinek, P. Pohunek, Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia, Pediatr. Pulmonol. 47 (2012) 864–875. doi:10.1002/ppul.22520.
[89] M. Failly, L. Bartoloni, A. Letourneau, A. Munoz, E. Falconnet, C. Rossier, M.M. de Santi, F. Santamaria, O. Sacco, C.D. DeLozier-Blanchet, R. Lazor, J.-L. Blouin, Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia, J. Med. Genet. 46 (2009) 281–286. doi:10.1136/jmg.2008.061176.
[90] N. Hornef, H. Olbrich, J. Horvath, M.A. Zariwala, M. Fliegauf, N.T. Loges, J. Wildhaber, P.G. Noone, M. Kennedy, S.E. Antonarakis, J.-L. Blouin, L. Bartoloni, T. Nüsslein, P. Ahrens, M. Griese, H. Kuhl, R. Sudbrak, M.R. Knowles, R. Reinhardt, H. Omran, DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects., Am. J. Respir. Crit. Care Med. 174 (2006) 120–6. doi:10.1164/rccm.200601-084OC.
[91] M. Failly, A. Saitta, A. Muñoz, E. Falconnet, C. Rossier, F. Santamaria, M.M. de Santi, R. Lazor, C.D. DeLozier-Blanchet, L. Bartoloni, J.-L. Blouin, DNAI1 Mutations Explain Only 2 percent of Primary Ciliary Dykinesia, Respiration. 76 (2008) 198–204. doi:10.1159/000128567.
[92] M.A. Zariwala, M.R. Knowles, M.W. Leigh, Primary Ciliary Dyskinesia, University of Washington, Seattle, 1993. http://www.ncbi.nlm.nih.gov/pubmed/20301301 (accessed June 14, 2017).
[93] N.T. Loges, H. Olbrich, L. Fenske, H. Mussaffi, J. Horvath, M. Fliegauf, H. Kuhl, G. Baktai, E. Peterffy, R. Chodhari, E.M.K. Chung, A. Rutman, C. O’Callaghan, H. Blau, L. Tiszlavicz, K. Voelkel, M. Witt, E. Zi?tkiewicz, J. Neesen, R. Reinhardt, H.M. Mitchison, H. Omran, DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm, Am. J. Hum. Genet. 83 (2008) 547–558. doi:10.1016/j.ajhg.2008.10.001.
[94] M. Boon, J. Wallmeier, L. Ma, N.T. Loges, M. Jaspers, H. Olbrich, G.W. Dougherty, J. Raidt, C. Werner, I. Amirav, A. Hevroni, R. Abitbul, A. Avital, R. Soferman, M. Wessels, C. O’Callaghan, E.M.K. Chung, A. Rutman, R.A. Hirst, E. Moya, H.M. Mitchison, S. Van Daele, K. De Boeck, M. Jorissen, C. Kintner, H. Cuppens, H. Omran, MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia, Nat. Commun. 5 (2014) 4418. doi:10.1038/ncomms5418.
[95] E. Kott, M. Legendre, B. Copin, J.-F. Papon, F. Dastot-Le Moal, G. Montantin, P. Duquesnoy, W. Piterboth, D. Amram, L. Bassinet, J. Beucher, N. Beydon, E. Deneuville, V. Houdouin, H. Journel, J. Just, N. Nathan, A. Tamalet, N. Collot, L. Jeanson, M. Le Gouez, B. Vallette, A.-M. Vojtek, R. Epaud, A. Coste, A. Clement, B. Housset, B. Louis, E. Escudier, S. Amselem, Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects, Am. J. Hum. Genet. 93 (2013) 561–570. doi:10.1016/j.ajhg.2013.07.013.
[96] E. Ziętkiewicz, Z. Bukowy-Bieryłło, K. Voelkel, B. Klimek, H. Dmeńska, A. Pogorzelski, A. Sulikowska-Rowińska, E. Rutkiewicz, M. Witt, Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients, PLoS One. 7 (2012). doi:10.1371/journal.pone.0033667.
[97] M. Knowles, L. Ostrowski, N. Loges, T. Hurd, M. Leigh, L. Huang, W. Wolf, J. Carson, M. Hazucha, W. Yin, S. Davis, S. Dell, T. Ferkol, S. Sagel, K. Olivier, C. Jahnke, H. Olbrich, C. Werner, J. Raidt, J. Wallmeier, P. Pennekamp, G. Dougherty, R. Hjeij, H. Gee, E. Otto, J. Halbritter, M. Chaki, K.A. Diaz, D. Braun, J. Porath, M. Schueler, G. Baktai, M. Griese, E. Turner, A. Lewis, M. Bamshad, D. Nickerson, F. Hildebrandt, J. Shendure, H. Omran, M. Zariwala, Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms, Am. J. Hum. Genet. 93 (2013) 711–720. doi:10.1016/j.ajhg.2013.07.025.
[98] M.A. Zariwala, H.Y. Gee, M. Kurkowiak, D.A. Al-Mutairi, M.W. Leigh, T.W. Hurd, R. Hjeij, S.D. Dell, M. Chaki, G.W. Dougherty, M. Adan, P.C. Spear, J. Esteve-Rudd, N.T. Loges, M. Rosenfeld, K.A. Diaz, H. Olbrich, W.E. Wolf, E. Sheridan, T.F.C. Batten, J. Halbritter, J.D. Porath, S. Kohl, S. Lovric, D.-Y. Hwang, J.E. Pittman, K.A. Burns, T.W. Ferkol, S.D. Sagel, K.N. Olivier, L.C. Morgan, C. Werner, J. Raidt, P. Pennekamp, Z. Sun, W. Zhou, R. Airik, S. Natarajan, S.J. Allen, I. Amirav, D. Wieczorek, K. Landwehr, K. Nielsen, N. Schwerk, J. Sertic, G. Köhler, J. Washburn, S. Levy, S. Fan, C. Koerner-Rettberg, S. Amselem, D.S. Williams, B.J. Mitchell, I.A. Drummond, E.A. Otto, H. Omran, M.R. Knowles, F. Hildebrandt, ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6, Am. J. Hum. Genet. 93 (2013) 336–345. doi:10.1016/j.ajhg.2013.06.007.
[99] E.M. Valente, F. Brancati, J.L. Silhavy, M. Castori, S.E. Marsh, G. Barrano, E. Bertini, E. Boltshauser, M.S. Zaki, A. Abdel-Aleem, G.M.H. Abdel-Salam, E. Bellacchio, R. Battini, R.P. Cruse, W.B. Dobyns, K.S. Krishnamoorthy, C. Lagier-Tourenne, A. Magee, I. Pascual-Castroviejo, C.D. Salpietro, D. Sarco, B. Dallapiccola, J.G. Gleeson, International JSRD Study Group, AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders, Ann. Neurol. 59 (2006) 527–534. doi:10.1002/ana.20749.
[100] A.M. Alazami, M.J. Alshammari, M.A. Salih, F. Alzahrani, H. Hijazi, M.Z. Seidahmed, L. Abu Safieh, M. Aldosary, A.O. Khan, F.S. Alkuraya, Molecular characterization of Joubert syndrome in Saudi Arabia, Hum. Mutat. 33 (2012) 1423–1428. doi:10.1002/humu.22134.
[101] N. Akizu, J. Silhavy, R. Rosti, E. Scott, A. Fenstermaker, J. Schroth, M. Zaki, H. Sanchez, N. Gupta, M. Kabra, M. Kara, T. Ben-Omran, B. Rosti, A. Guemez-Gamboa, E. Spencer, R. Pan, N. Cai, M. Abdellateef, S. Gabriel, J. Halbritter, F. Hildebrandt, H. van?Bokhoven, M. Gunel, J. Gleeson, Mutations in CSPP1 Lead to Classical Joubert Syndrome, Am. J. Hum. Genet. 94 (2014) 80–86. doi:10.1016/j.ajhg.2013.11.015.
[102] M.A. Parisi, D. Doherty, M.L. Eckert, D.W.W. Shaw, H. Ozyurek, S. Aysun, O. Giray, A. Al Swaid, S. Al Shahwan, N. Dohayan, E. Bakhsh, O.S. Indridason, W.B. Dobyns, C.L. Bennett, P.F. Chance, I.A. Glass, AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome, J. Med. Genet. 43 (2005) 334–339. doi:10.1136/jmg.2005.036608.
[103] H.Y. Kroes, G.R. Monroe, B. van der Zwaag, K.J. Duran, C.G. de Kovel, M.J. van Roosmalen, M. Harakalova, I.J. Nijman, W.P. Kloosterman, R.H. Giles, N.V. Knoers, G. van Haaften, Joubert syndrome: genotyping a Northern European patient cohort, Eur. J. Hum. Genet. 24 (2016) 214–220. doi:10.1038/ejhg.2015.84.
[104] R. Bachmann-Gagescu, G.E. Ishak, J.C. Dempsey, J. Adkins, D. O’Day, I.G. Phelps, M. Gunay-Aygun, A.D. Kline, K. Szczaluba, L. Martorell, A. Alswaid, S. Alrasheed, S. Pai, L. Izatt, A. Ronan, M.A. Parisi, H. Mefford, I. Glass, D. Doherty, Genotype?phenotype correlation in CC2D2A -related Joubert syndrome reveals an association with ventriculomegaly and seizures, J. Med. Genet. 49 (2012) 126–137. doi:10.1136/jmedgenet-2011-100552.
[105] R. Bachmann-Gagescu, J.C. Dempsey, I.G. Phelps, B.J. O’Roak, D.M. Knutzen, T.C. Rue, G.E. Ishak, C.R. Isabella, N. Gorden, J. Adkins, E.A. Boyle, N. de Lacy, D. O’Day, A. Alswaid, R. Ramadevi A, L. Lingappa, C. Lourenço, L. Martorell, À. Garcia-Cazorla, H. Ozyürek, G. Haliloğlu, B. Tuysuz, M. Topçu, P. University of Washington Center for Mendelian Genomics, P. Chance, M.A. Parisi, I.A. Glass, J. Shendure, D. Doherty, Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity., J. Med. Genet. 52 (2015) 514–22. doi:10.1136/jmedgenet-2015-103087.
[106] G. Caridi, M. Dagnino, A. Rossi, E.M. Valente, E. Bertini, E. Fazzi, F. Emma, L. Murer, E. Verrina, G.M. Ghiggeri, Nephronophthisis type 1 deletion syndrome with neurological symptoms: Prevalence and significance of the association, Kidney Int. 70 (2006) 1342–1347. doi:10.1038/sj.ki.5001768.
[107] M. Castori, E.M. Valente, M.A. Donati, S. Salvi, E. Fazzi, E. Procopio, T. Galluccio, F. Emma, B. Dallapiccola, E. Bertini, Italian MTS Study Group, NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders., J. Med. Genet. 42 (2005) e9. doi:10.1136/jmg.2004.027375.
[108] M.A. Parisi, C.L. Bennett, M.L. Eckert, W.B. Dobyns, J.G. Gleeson, D.W.W. Shaw, R. McDonald, A. Eddy, P.F. Chance, I.A. Glass, The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome., Am. J. Hum. Genet. 75 (2004) 82–91. doi:10.1086/421846.
[109] K. Tory, T. Lacoste, L. Burglen, V. Morinière, N. Boddaert, M.-A. Macher, B. Llanas, H. Nivet, A. Bensman, P. Niaudet, C. Antignac, R. Salomon, S. Saunier, High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations., J. Am. Soc. Nephrol. 18 (2007) 1566–75. doi:10.1681/ASN.2006101164.
[110] D. Doherty, M.A. Parisi, L.S. Finn, M. Gunay-Aygun, M. Al-Mateen, D. Bates, C. Clericuzio, H. Demir, M. Dorschner, A.J. van Essen, W.A. Gahl, M. Gentile, N.T. Gorden, A. Hikida, D. Knutzen, H. Ozyurek, I. Phelps, P. Rosenthal, A. Verloes, H. Weigand, P.F. Chance, W.B. Dobyns, I.A. Glass, Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)., J. Med. Genet. 47 (2010) 8–21. doi:10.1136/jmg.2009.067249.
[111] E.M. Valente, C. V Logan, S. Mougou-Zerelli, J.H. Lee, J.L. Silhavy, F. Brancati, M. Iannicelli, L. Travaglini, S. Romani, B. Illi, M. Adams, K. Szymanska, A. Mazzotta, J.E. Lee, J.C. Tolentino, D. Swistun, C.D. Salpietro, C. Fede, S. Gabriel, C. Russ, K. Cibulskis, C. Sougnez, F. Hildebrandt, E.A. Otto, S. Held, B.H. Diplas, E.E. Davis, M. Mikula, C.M. Strom, B. Ben-Zeev, D. Lev, T.L. Sagie, M. Michelson, Y. Yaron, A. Krause, E. Boltshauser, N. Elkhartoufi, J. Roume, S. Shalev, A. Munnich, S. Saunier, C. Inglehearn, A. Saad, A. Alkindy, S. Thomas, M. Vekemans, B. Dallapiccola, N. Katsanis, C.A. Johnson, T. Atti?-Bitach, J.G. Gleeson, Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes, Nat. Genet. 42 (2010) 619–625. doi:10.1038/ng.594.
[112] L. Baala, S. Romano, R. Khaddour, S. Saunier, U.M. Smith, S. Audollent, C. Ozilou, L. Faivre, N. Laurent, B. Foliguet, A. Munnich, S. Lyonnet, R. Salomon, F. Encha-Razavi, M.-C. Gubler, N. Boddaert, P. de Lonlay, C.A. Johnson, M. Vekemans, C. Antignac, T. Attie-Bitach, The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome., Am. J. Hum. Genet. 80 (2007) 186–94. doi:10.1086/510499.
[113] E.A. Otto, G. Ramaswami, S. Janssen, M. Chaki, S.J. Allen, W. Zhou, R. Airik, T.W. Hurd, A.K. Ghosh, M.T. Wolf, B. Hoppe, T.J. Neuhaus, D. Bockenhauer, D. V. Milford, N.A. Soliman, C. Antignac, S. Saunier, C.A. Johnson, F. Hildebrandt, GPN Study Group, Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy, J. Med. Genet. 48 (2011) 105–116. doi:10.1136/jmg.2010.082552.
[114] F. Brancati, M. Iannicelli, L. Travaglini, A. Mazzotta, E. Bertini, E. Boltshauser, S. D’Arrigo, F. Emma, E. Fazzi, R. Gallizzi, M. Gentile, D. Loncarevic, V. Mejaski-Bosnjak, C. Pantaleoni, L. Rigoli, C.D. Salpietro, S. Signorini, G.R. Stringini, A. Verloes, D. Zabloka, B. Dallapiccola, J.G. Gleeson, E.M. Valente, International JSRD Study Group, MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement., Hum. Mutat. 30 (2009) E432-42. doi:10.1002/humu.20924.
[115] K. Szymanska, I. Berry, C. V Logan, S.R. Cousins, H. Lindsay, H. Jafri, Y. Raashid, S. Malik-Sharif, B. Castle, M. Ahmed, C. Bennett, R. Carlton, C.A. Johnson, Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies., Cilia. 1 (2012) 18. doi:10.1186/2046-2530-1-18.
[116] R. Khaddour, U. Smith, L. Baala, J. Martinovic, D. Clavering, R. Shaffiq, C. Ozilou, A. Cullinane, M. Kyttälä, S. Shalev, S. Audollent, C. d’Humières, N. Kadhom, C. Esculpavit, G. Viot, C. Boone, C. Oien, F. Encha-Razavi, P.A. Batman, C.P. Bennett, C.G. Woods, J. Roume, S. Lyonnet, E. Génin, M. Le Merrer, A. Munnich, M.-C. Gubler, P. Cox, F. Macdonald, M. Vekemans, C.A. Johnson, T. Attié-Bitach, SOFFOET (Société Française de Foetopathologie), Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online., Hum. Mutat. 28 (2007) 523–4. doi:10.1002/humu.9489.
[117] E. Lopez, C. Thauvin-Robinet, B. Reversade, N. El Khartoufi, L. Devisme, M. Holder, H. Ansart-Franquet, M. Avila, D. Lacombe, P. Kleinfinger, I. Kaori, J.-I. Takanashi, M. Le Merrer, J. Martinovic, C. No?l, M. Shboul, L. Ho, Y. G?ven, F. Razavi, L. Burglen, N. Gigot, V. Darmency-Stamboul, J. Thevenon, B. Aral, H. Kayserili, F. Huet, S. Lyonnet, C. Le Caignec, B. Franco, J.-B. Rivi?re, L. Faivre, T. Atti?-Bitach, C5orf42 is the major gene responsible for OFD syndrome type VI, Hum. Genet. 133 (2014) 367–377. doi:10.1007/s00439-013-1385-1.
[118] M. Romani, F. Mancini, A. Micalizzi, A. Poretti, E. Miccinilli, P. Accorsi, E. Avola, E. Bertini, R. Borgatti, R. Romaniello, S. Ceylaner, G. Coppola, S. D’Arrigo, L. Giordano, A.R. Janecke, M. Lituania, K. Ludwig, L. Martorell, T. Mazza, S. Odent, L. Pinelli, P. Poo, M. Santucci, S. Signorini, A. Simonati, R. Spiegel, F. Stanzial, M. Steinlin, B. Tabarki, N.I. Wolf, F. Zibordi, E. Boltshauser, E.M. Valente, Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?, Hum. Genet. 134 (2015) 123–6. doi:10.1007/s00439-014-1508-3.
[119] C. Prattichizzo, M. Macca, V. Novelli, G. Giorgio, A. Barra, B. Franco, Oral-Facial-Digital Type I (OFDI) Collaborative Group, Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients, Hum. Mutat. 29 (2008) 1237–1246. doi:10.1002/humu.20792.
[120] M.J.M. Nowaczyk, S. Zeesman, D.T. Whelan, V. Wright, S.A. Feather, Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: A clarification, Am. J. Med. Genet. 123A (2003) 179–182. doi:10.1002/ajmg.a.20215.
[121] C. Thauvin-Robinet, M. Cossée, V. Cormier-Daire, L. Van Maldergem, A. Toutain, Y. Alembik, E. Bieth, V. Layet, P. Parent, A. David, A. Goldenberg, G. Mortier, D. Héron, P. Sagot, A.M. Bouvier, F. Huet, V. Cusin, A. Donzel, D. Devys, J.R. Teyssier, L. Faivre, Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study., J. Med. Genet. 43 (2006) 54–61. doi:10.1136/jmg.2004.027672.
[122] J.K. Stoller, F.L. Lacbawan, L.S. Aboussouan, Alpha-1 Antitrypsin Deficiency, University of Washington, Seattle, 1993. http://www.ncbi.nlm.nih.gov/pubmed/20301692 (accessed August 17, 2017).
[123] M.E. Conley, A. Broides, V. Hernandez-Trujillo, V. Howard, H. Kanegane, T. Miyawaki, S.A. Shurtleff, Genetic analysis of patients with defects in early B-cell development, Immunol. Rev. 203 (2005) 216–234. doi:10.1111/j.0105-2896.2005.00233.x.
[124] K.R. Engelhardt, S. McGhee, S. Winkler, A. Sassi, C. Woellner, G. Lopez-Herrera, A. Chen, H.S. Kim, M.G. Lloret, I. Schulze, S. Ehl, J. Thiel, D. Pfeifer, H. Veelken, T. Niehues, K. Siepermann, S. Weinspach, I. Reisli, S. Keles, F. Genel, N. Kutuculer, Y. Camc?o?lu, A. Somer, E. Karakoc-Aydiner, I. Barlan, A. Gennery, A. Metin, A. Degerliyurt, M.C. Pietrogrande, M. Yeganeh, Z. Baz, S. Al-Tamemi, C. Klein, J.M. Puck, S.M. Holland, E.R.B. McCabe, B. Grimbacher, T.A. Chatila, Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome, J. Allergy Clin. Immunol. 124 (2009) 1289–1302.e4. doi:10.1016/j.jaci.2009.10.038.
[125] L.F. Schimke, J. Sawalle-Belohradsky, J. Roesler, A. Wollenberg, A. Rack, M. Borte, N. Rieber, R. Cremer, E. Maass, R. Dopfer, J. Reichenbach, V. Wahn, M. Hoenig, A.F. Jansson, A. Roesen-Wolff, B. Schaub, R. Seger, H.R. Hill, H.D. Ochs, T.R. Torgerson, B.H. Belohradsky, E.D. Renner, Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis., J. Allergy Clin. Immunol. 126 (2010) 611–7.e1. doi:10.1016/j.jaci.2010.06.029.
[126] E. Hoorntje, W. te Rijdt, C. James, K. Pilichou, C. Basso, D. Judge, C. Bezzina, and J. van Tintelen, Arrhythmogenic cardiomyopathy: pathology, genetics, and concepts in pathogenesis, Cardiovasc Res 113 (2017) 1521–1531.
Clinical genetics and genomics laboratory
Ground floor (level 2), Sydney wing, Royal Brompton Hospital, Sydney Street, London, SW3 6NP
Telephone: 020 7352 8121 ext. 83009
Email: rbh-tr.genomics@nhs.net or geneticslab@rbht.nhs.uk
Opening hours: Monday to Friday, 9 am - 5 pm
Head of laboratory: Dr Deborah Morris-Rosendahl
Useful documents
Molecular genetic testing request and consent form (431KB)
Non-NHS molecular genetic testing request and consent form (493KB)