Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2011

Open Access 01-12-2011 | Research

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Authors: Crystel Bonnet, M'hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, Marine Parodi, Magali Niasme-Grare, Diana Zelenika, Marc Délépine, Delphine Feldmann, Laurence Jonard, Aziz El-Amraoui, Dominique Weil, Bruno Delobel, Christophe Vincent, Hélène Dollfus, Marie-Madeleine Eliot, Albert David, Catherine Calais, Jacqueline Vigneron, Bettina Montaut-Verient, Dominique Bonneau, Jacques Dubin, Christel Thauvin, Alain Duvillard, Christine Francannet, Thierry Mom, Didier Lacombe, Françoise Duriez, Valérie Drouin-Garraud, Marie-Françoise Thuillier-Obstoy, Sabine Sigaudy, Anne-Marie Frances, Patrick Collignon, Georges Challe, Rémy Couderc, Mark Lathrop, José-Alain Sahel, Jean Weissenbach, Christine Petit, Françoise Denoyelle

Published in: Orphanet Journal of Rare Diseases | Issue 1/2011

Login to get access

Abstract

Background

Usher syndrome (USH) combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational and patient management choices, and for genetic counseling. To date, nine causative genes have been identified for the three clinical subtypes (USH1, USH2 and USH3). Current diagnostic strategies make use of a genotyping microarray that is based on the previously reported mutations. The purpose of this study was to design a more accurate molecular diagnosis tool.

Methods

We sequenced the 366 coding exons and flanking regions of the nine known USH genes, in 54 USH patients (27 USH1, 21 USH2 and 6 USH3).

Results

Biallelic mutations were detected in 39 patients (72%) and monoallelic mutations in an additional 10 patients (18.5%). In addition to biallelic mutations in one of the USH genes, presumably pathogenic mutations in another USH gene were detected in seven patients (13%), and another patient carried monoallelic mutations in three different USH genes. Notably, none of the USH3 patients carried detectable mutations in the only known USH3 gene, whereas they all carried mutations in USH2 genes. Most importantly, the currently used microarray would have detected only 30 of the 81 different mutations that we found, of which 39 (48%) were novel.

Conclusions

Based on these results, complete exon sequencing of the currently known USH genes stands as a definite improvement for molecular diagnosis of this disease, which is of utmost importance in the perspective of gene therapy.
Appendix
Available only for authorised users
Literature
1.
2.
Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD: Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature. 1995, 374: 60-61. 10.1038/374060a0.CrossRefPubMed
3.
Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM: A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet. 2000, 26 (1): 56-60. 10.1038/79178.CrossRefPubMed
4.
Verpy E, Leibovici M, Zwaenepoel I, Liu X-Z, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJB: A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet. 2000, 26 (1): 51-55. 10.1038/79171.CrossRefPubMed
5.
Bolz H, von Brederlow B, Ramirez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del CSCM, Vila MC, Molina OP: Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet. 2001, 27 (1): 108-112. 10.1038/83667.CrossRefPubMed
6.
Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CRS: Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001, 68 (1): 26-37. 10.1086/316954.PubMedCentralCrossRefPubMed
7.
Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER: Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet. 2001, 69 (1): 25-34. 10.1086/321277.PubMedCentralCrossRefPubMed
8.
Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CRS, Lowry RB, Knaus R, Van Laer L, Bernier FP: Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet. 2001, 10 (16): 1709-1718. 10.1093/hmg/10.16.1709.CrossRefPubMed
9.
Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, BenZina Z: Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet. 2003, 12 (5): 463-471. 10.1093/hmg/ddg051.CrossRefPubMed
10.
Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C: Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science. 1998, 280 (5370): 1753-1757. 10.1126/science.280.5370.1753.CrossRefPubMed
11.
Weston MD, Luijendijk MW, Humphrey KD, Moller C, Kimberling WJ: Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet. 2004, 74 (2): 357-366. 10.1086/381685.PubMedCentralCrossRefPubMed
12.
Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millan JM, Aller E, Mitter D, Bolz H: A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum Genet. 2007, 121 (2): 203-211. 10.1007/s00439-006-0304-0.CrossRefPubMed
13.
Joensuu T, Hamalainen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE: Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet. 2001, 69 (4): 673-684. 10.1086/323610.PubMedCentralCrossRefPubMed
14.
Liu X-Z, Walsh J, Mburu P, Kendrick-Jones J, Cope MJTV, Steel KP, Brown SDM: Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet. 1997, 16 (2): 188-190. 10.1038/ng0697-188.CrossRefPubMed
15.
Liu X-Z, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown SDM: Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet. 1997, 17 (3): 268-269. 10.1038/ng1197-268.CrossRefPubMed
16.
Weil D, Küssel P, Blanchard S, Lévy G, Levi-Acobas F, Drira M, Ayadi H, Petit C: The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet. 1997, 16: 191-193. 10.1038/ng0697-191.CrossRefPubMed
17.
Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PSN, Deshmukh D, Griffith AJ, Riazuddin S: Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet. 2002, 110 (6): 527-531. 10.1007/s00439-002-0732-4.CrossRefPubMed
18.
Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu X-Z: Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. Hum Genet. 2002, 111: 26-30. 10.1007/s00439-002-0736-0.CrossRefPubMed
19.
Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS: Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet. 2003, 34 (4): 421-428. 10.1038/ng1208.CrossRefPubMed
20.
Rivolta C, Sweklo EA, Berson EL, Dryja TP: Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet. 2000, 66: 1975-1978. 10.1086/302926.PubMedCentralCrossRefPubMed
21.
Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Traboulsi EI, Heon E, Pittler SJ, Milam AH: Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Proc Natl Acad Sci USA. 2005, 102 (17): 6177-6182. 10.1073/pnas.0500646102.PubMedCentralCrossRefPubMed
22.
Cideciyan AV, Hauswirth WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL, Windsor EA, Conlon TJ, Sumaroka A, Roman AJ: Vision 1 year after gene therapy for Leber's congenital amaurosis. N Engl J Med. 2009, 361 (7): 725-727. 10.1056/NEJMc0903652.PubMedCentralCrossRefPubMed
23.
24.
Cremers FP, Kimberling WJ, Kulm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F: Development of a genotyping microarray for Usher syndrome. J Med Genet. 2007, 44 (2): 153-160.PubMedCentralCrossRefPubMed
25.
26.
Jaijo T, Aller E, Garcia-Garcia G, Aparisi MJ, Bernal S, Avila-Fernandez A, Barragan I, Baiget M, Ayuso C, Antinolo G: Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. Invest Ophthalmol Vis Sci. 2010, 51 (3): 1311-1317. 10.1167/iovs.09-4085.CrossRefPubMed
27.
Roux AF, Faugere V, Le Guedard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S: Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet. 2006, 43 (9): 763-768. 10.1136/jmg.2006.041954.PubMedCentralCrossRefPubMed
28.
Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Moller C, Nilssen O: Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. Hum Mutat. 2008, 29 (3):451.CrossRefPubMed
29.
Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJ: Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genet Med. 2010, 12 (8): 512-516. 10.1097/GIM.0b013e3181e5afb8.PubMedCentralCrossRefPubMed
30.
Kothiyal P, Cox S, Ebert J, Husami A, Kenna MA, Greinwald JH, Aronow BJ, Rehm HL: High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. BMC Biotechnol. 2010, 10:10. 10.1186/1472-6750-10-10.PubMedCentralCrossRefPubMed
31.
Boëda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J: Myosin VIIa, harmonin, and cadherin 23, three Usher I gene products, cooperate to shape the sensory hair cell bundle. EMBO J. 2002, 21 (24): 6689-6699. 10.1093/emboj/cdf689.PubMedCentralCrossRefPubMed
32.
Siemens J, Lillo C, Dumont RA, Reynolds A, Williams DS, Gillespie PG, Muller U: Cadherin 23 is a component of the tip link in hair-cell stereocilia. Nature. 2004, 428 (6986): 950-955. 10.1038/nature02483.CrossRefPubMed
33.
Adato A, Kikkawa Y, Reiners J, Alagramam KN, Weil D, Yonekawa H, Wolfrum U, El-Amraoui A, Petit C: Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet. 2005, 14 (3): 347-356.CrossRefPubMed
34.
Senften M, Schwander M, Kazmierczak P, Lillo C, Shin JB, Hasson T, Geleoc GS, Gillespie PG, Williams D, Holt JR: Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells. J Neurosci. 2006, 26 (7): 2060-2071. 10.1523/JNEUROSCI.4251-05.2006.PubMedCentralCrossRefPubMed
35.
Lefèvre G, Michel V, Weil D, Lepelletier L, Bizard E, Wolfrum U, Hardelin JP, Petit C: A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. Development. 2008, 135 (8): 1427-1437. 10.1242/dev.012922.CrossRefPubMed
36.
Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Muller U, Kachar B: Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells. Nature. 2007, 449 (7158): 87-91. 10.1038/nature06091.CrossRefPubMed
37.
Bahloul A, Michel V, Hardelin J-P, Nouaille S, Hoos S, Houdusse A, England P, Petit C: Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids. Hum Mol Genet. 2010, 19 (18): 3557-3565. 10.1093/hmg/ddq271.PubMedCentralCrossRefPubMed
38.
Yan J, Pan L, Chen X, Wu L, Zhang M: The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. Proc Natl Acad Sci USA. 2010, 107 (9): 4040-4045. 10.1073/pnas.0911385107.PubMedCentralCrossRefPubMed
39.
Pan L, Yan J, Wu L, Zhang M: Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23. Proc Natl Acad Sci USA. 2009, 106 (14): 5575-5580. 10.1073/pnas.0901819106.PubMedCentralCrossRefPubMed
40.
Michalski N, Michel V, Bahloul A, Lefèvre G, Barral J, Yagi H, Chardenoux S, Weil D, Martin P, Hardelin J-P: Molecular characterization of the ankle link complex in cochlear hair cells and its role in the hair bundle functioning. J Neurosci. 2007, 27 (24): 6478-6488. 10.1523/JNEUROSCI.0342-07.2007.CrossRefPubMed
41.
Yang J, Liu X, Zhao Y, Adamian M, Pawlyk B, Sun X, McMillan DR, Liberman MC, Li T: Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. PLoS Genet. 2010, 6 (5):e1000955. 10.1371/journal.pgen.1000955.PubMedCentralCrossRefPubMed
42.
Zheng QY, Yan D, Ouyang XM, Du LL, Yu H, Chang B, Johnson KR, Liu XZ: Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Hum Mol Genet. 2005, 14 (1): 103-111.PubMedCentralCrossRefPubMed
43.
Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Moller CG, Pelias MZ, Tranebjaerg L: Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet. 1994, 50 (1): 32-38. 10.1002/ajmg.1320500107.CrossRefPubMed
44.
Le Guedard S, Faugere V, Malcolm S, Claustres M, Roux AF: Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome. Mol Vis. 2007, 13: 102-107.PubMedCentralPubMed
45.
46.
47.
48.
49.
50.
51.
52.
53.
Zheng L, Zheng J, Whitlon DS, Garcia-Anoveros J, Bartles JR: Targeting of the hair cell proteins cadherin 23, harmonin, myosin XVa, espin, and prestin in an epithelial cell model. J Neurosci. 2010, 30 (21): 7187-7201. 10.1523/JNEUROSCI.0852-10.2010.PubMedCentralCrossRefPubMed
54.
von Brederlow B, Bolz H, Janecke A, La OCA, Rudolph G, Lorenz B, Schwinger E, Gal A: Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. Hum Mutat. 2002, 19 (3): 268-273. 10.1002/humu.10049.CrossRefPubMed
55.
Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S: CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet. 2002, 71 (2): 262-275. 10.1086/341558.PubMedCentralCrossRefPubMed
56.
Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C, Kimberling WJ: Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. Hum Mutat. 2008, 29 (6): E37-46. 10.1002/humu.20761.PubMedCentralCrossRefPubMed
57.
Sotomayor M, Weihofen WA, Gaudet R, Corey DP: Structural determinants of cadherin-23 function in hearing and deafness. Neuron. 2010, 66 (1): 85-100. 10.1016/j.neuron.2010.03.028.PubMedCentralCrossRefPubMed
58.
Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V: Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet. 2005, 116 (4): 292-299. 10.1007/s00439-004-1227-2.CrossRefPubMed
59.
Dreyer B, Tranebjaerg L, Brox V, Rosenberg T, Moller C, Beneyto M, Weston MD, Kimberling WJ, Cremers CW, Liu XZ: A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet. 2001, 69 (1): 228-234. 10.1086/321269.PubMedCentralCrossRefPubMed
60.
Pennings RJ, Te Brinke H, Weston MD, Claassen A, Orten DJ, Weekamp H, Van Aarem A, Huygen PL, Deutman AF, Hoefsloot LH: USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. Hum Mutat. 2004, 24 (2): 185.CrossRefPubMed
61.
Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonne-Tamir B: Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. Am J Hum Genet. 1997, 61 (4): 813-821. 10.1086/514899.PubMedCentralCrossRefPubMed
62.
Janecke AR, Meins M, Sadeghi M, Grundmann K, Apfelststedt-Sylla E, Zrenner E, Rosenberg T, Gal A: Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. Hum Mutat. 1999, 13: 133-140. 10.1002/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U.CrossRefPubMed
63.
Bharadwaj AK, Kasztejna JP, Huq S, Berson EL, Dryja TP: Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. Exp Eye Res. 2000, 71 (2): 173-181. 10.1006/exer.2000.0863.CrossRefPubMed
64.
Jaijo T, Aller E, Oltra S, Beneyto M, Najera C, Ayuso C, Baiget M, Carballo M, Antinolo G, Valverde D: Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Hum Mutat. 2006, 27 (3): 290-291.CrossRefPubMed
65.
Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB: PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet. 2003, 12 (24): 3215-3223. 10.1093/hmg/ddg358.CrossRefPubMed
66.
Baux D, Larrieu L, Blanchet C, Hamel C, Ben Salah S, Vielle A, Gilbert-Dussardier B, Holder M, Calvas P, Philip N: Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat. 2007, 28 (8): 781-789. 10.1002/humu.20513.CrossRefPubMed
67.
Lagziel A, Ahmed ZM, Schultz JM, Morell RJ, Belyantseva IA, Friedman TB: Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. Dev Biol. 2005, 280 (2): 295-306. 10.1016/j.ydbio.2005.01.015.CrossRefPubMed
68.
Michel V, Goodyear RJ, Weil D, Marcotti W, Perfettini I, Wolfrum U, Kros C, Richardson GP, Petit C: Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells. Dev Biol. 2005, 280: 281-294. 10.1016/j.ydbio.2005.01.014.CrossRefPubMed
69.
Ahmed ZM, Goodyear R, Riazuddin S, Lagziel A, Legan PK, Behra M, Burgess SM, Lilley KS, Wilcox ER, Riazuddin S: The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. J Neurosci. 2006, 26 (26): 7022-7034. 10.1523/JNEUROSCI.1163-06.2006.CrossRefPubMed
70.
Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H: A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med. 2003, 348 (17): 1664-1670. 10.1056/NEJMoa021502.CrossRefPubMed
71.
Webb SW, Grillet N, Andrade LR, Xiong W, Swarthout L, Della Santina CC, Kachar B, Muller U: Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain. Development. 138 (8): 1607-1617.
72.
Hubbard TJ, Aken BL, Beal K, Ballester B, Caccamo M, Chen Y, Clarke L, Coates G, Cunningham F, Cutts T: Ensembl 2007. Nucleic Acids Res. 2007,, 35 Database: D610-617.PubMedCentralCrossRefPubMed
73.
Chen JY, Huang DY, Peng QQ, Chi HM, Wang XQ, Feng M: The first tunicate from the Early Cambrian of South China. Proc Natl Acad Sci USA. 2003, 100 (14): 8314-8318. 10.1073/pnas.1431177100.PubMedCentralCrossRefPubMed
74.
Ahmed ZM, Riazuddin S, Khan SN, Friedman PL, Riazuddin S, Friedman TB: USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. Clin Genet. 2009, 75 (1): 86-91. 10.1111/j.1399-0004.2008.01038.x.PubMedCentralCrossRefPubMed
75.
Ben Rebeh I, Benzina Z, Dhouib H, Hadjamor I, Amyere M, Ayadi L, Turki K, Hammami B, Kmiha N, Kammoun H: Identification of candidate regions for a novel Usher syndrome type II locus. Mol Vis. 2008, 14: 1719-1726.PubMedCentralPubMed
76.
Schneider E, Marker T, Daser A, Frey-Mahn G, Beyer V, Farcas R, Schneider-Ratzke B, Kohlschmidt N, Grossmann B, Bauss K: Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. Hum Mol Genet. 2009, 18 (4): 655-666.CrossRefPubMed
77.
Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schafer E, Roux AF, Dafinger C, Bernd A: PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest. 2010, 120 (6): 1812-1823. 10.1172/JCI39715.PubMedCentralCrossRefPubMed
78.
Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J: Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am J Hum Genet. 1996, 59 (5): 1074-1083.PubMedCentralPubMed
79.
Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT: Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat. 2008, 29 (4): 502-511. 10.1002/humu.20677.CrossRefPubMed
80.
Jacobson SG, Aleman TS, Sumaroka A, Cideciyan AV, Roman AJ, Windsor EA, Schwartz SB, Rehm HL, Kimberling WJ: Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. Invest Ophthalmol Vis Sci. 2009, 50 (4): 1886-1894.CrossRefPubMed
81.
Dreyer B, Tranebjaerg L, Rosenberg T, Weston MD, Kimberling WJ, Nilssen O: Identification of novel USH2A mutations: implications for the structure of USH2A protein. Eur J Hum Genet. 2000, 8 (7): 500-506. 10.1038/sj.ejhg.5200491.CrossRefPubMed
82.
Maubaret C, Griffoin JM, Arnaud B, Hamel C: Novel mutations in MYO7A and USH2A in Usher syndrome. Ophthalmic Genet. 2005, 26 (1): 25-29. 10.1080/13816810590918118.CrossRefPubMed
83.
Bernal S, Meda C, Solans T, Ayuso C, Garcia-Sandoval B, Valverde D, Del Rio E, Baiget M: Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation. Clin Genet. 2005, 68 (3): 204-214. 10.1111/j.1399-0004.2005.00481.x.CrossRefPubMed
84.
van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H: Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet. 2004, 74 (4): 738-744. 10.1086/383096.PubMedCentralCrossRefPubMed
85.
Gerber S, Bonneau D, Gilbert B, Munnich A, Dufier JL, Rozet JM, Kaplan J: USH1A: chronicle of a slow death. Am J Hum Genet. 2006, 78 (2): 357-359. 10.1086/500275.PubMedCentralCrossRefPubMed
86.
Leroy BP, Aragon-Martin JA, Weston MD, Bessant DA, Willis C, Webster AR, Bird AC, Kimberling WJ, Payne AM, Bhattacharya SS: Spectrum of mutations in USH2A in British patients with Usher syndrome type II. Exp Eye Res. 2001, 72 (5): 503-509. 10.1006/exer.2000.0978.CrossRefPubMed
87.
Yan D, Ouyang X, Patterson DM, Du LL, Jacobson SG, Liu XZ: Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. J Hum Genet. 2009, 54 (12): 732-738. 10.1038/jhg.2009.107.PubMedCentralCrossRefPubMed
88.
Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Mizuta K, Mineta H, Minoshima S: Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2. Clin Genet. 2009, 76 (4): 383-391. 10.1111/j.1399-0004.2009.01257.x.CrossRefPubMed
89.
Aller E, Jaijo T, Beneyto M, Najera C, Oltra S, Ayuso C, Baiget M, Carballo M, Antinolo G, Valverde D: Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. J Med Genet. 2006, 43 (11):e55. 10.1136/jmg.2006.041764.PubMedCentralCrossRefPubMed
90.
Ebermann I, Koenekoop RK, Lopez I, Bou-Khzam L, Pigeon R, Bolz HJ: An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. Eur J Hum Genet. 2009, 17 (1): 80-84. 10.1038/ejhg.2008.143.PubMedCentralCrossRefPubMed
91.
Cuevas JM, Espinos C, Millan JM, Sanchez F, Trujillo MJ, Ayuso C, Beneyto M, Najera C: Identification of three novel mutations in the MYO7A gene. Hum Mutat. 1999, 14 (2): 181.CrossRef
92.
93.
Wagatsuma M, Kitoh R, Suzuki H, Fukuoka H, Takumi Y, Usami S: Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. Clin Genet. 2007, 72 (4): 339-344. 10.1111/j.1399-0004.2007.00833.x.CrossRefPubMed
94.
Rouget-Quermalet V, Giustiniani J, Marie-Cardine A, Beaud G, Besnard F, Loyaux D, Ferrara P, Leroy K, Shimizu N, Gaulard P: Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomas. Oncogene. 2006, 25 (19): 2807-2811. 10.1038/sj.onc.1209301.CrossRefPubMed
95.
Adato A, Weston MD, Berry A, Kimberling WJ, Bonne-Tamir A: Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. Hum Mutat. 2000, 15 (4): 388. 0.1002/(SICI)1098-1004(200004)15:4<388::AID-HUMU27>3.0.CO;2-N.CrossRefPubMed
96.
Bernal S, Ayuso C, Antinolo G, Gimenez A, Borrego S, Trujillo MJ, Marcos I, Calaf M, Del Rio E, Baiget M: Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J Med Genet. 2003, 40 (1): e8. 10.1136/jmg.40.1.e8.PubMedCentralCrossRefPubMed
97.
Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H: Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Genome Res. 2001, 11 (3): 422-435. 10.1101/gr.GR1547R.PubMedCentralCrossRefPubMed
98.
Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, Garcia-Garcia G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C: Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. Mol Vis. 2010, 16: 495-500.PubMedCentralPubMed
99.
Guan J, Wang Q, Wang D, Li Q, Zhao Y, Han I: An analysis of WHRN gene mutations in a novel locus mapped for the Chinese pedigree associated with low-frequency sensorineural hearing loss. J Audiol & Speech Pathol (Chinese). 2008.
100.
Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A: Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C. Mol Vis. 2007, 13: 1862-1865.PubMed
101.
Chen ZY, Hasson T, Kelley PM, Schwender BJ, Schwartz MF, Ramakrishnan M, Kimberling WJ, Mooseker MS, Corey DP: Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B. Genomics. 1996, 36 (3): 440-448. 10.1006/geno.1996.0489.CrossRefPubMed
Metadata
Title
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
Authors
Crystel Bonnet
M'hamed Grati
Sandrine Marlin
Jacqueline Levilliers
Jean-Pierre Hardelin
Marine Parodi
Magali Niasme-Grare
Diana Zelenika
Marc Délépine
Delphine Feldmann
Laurence Jonard
Aziz El-Amraoui
Dominique Weil
Bruno Delobel
Christophe Vincent
Hélène Dollfus
Marie-Madeleine Eliot
Albert David
Catherine Calais
Jacqueline Vigneron
Bettina Montaut-Verient
Dominique Bonneau
Jacques Dubin
Christel Thauvin
Alain Duvillard
Christine Francannet
Thierry Mom
Didier Lacombe
Françoise Duriez
Valérie Drouin-Garraud
Marie-Françoise Thuillier-Obstoy
Sabine Sigaudy
Anne-Marie Frances
Patrick Collignon
Georges Challe
Rémy Couderc
Mark Lathrop
José-Alain Sahel
Jean Weissenbach
Christine Petit
Françoise Denoyelle
Publication date
01-12-2011
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2011
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/1750-1172-6-21

Other articles of this Issue 1/2011

Orphanet Journal of Rare Diseases 1/2011 Go to the issue

Review

Congenital hyperinsulinism: current trends in diagnosis and therapy

Review

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Research

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Research

"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial

Review

VACTERL/VATER Association

Research

Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)