C. Petit, Usher syndrome: from genetics to pathogenesis, Annu Rev Genomics Hum Genet, vol.2, pp.271-297, 2001.

Z. Saihan, A. R. Webster, L. Luxon, and M. Bitner-glindzicz, Update on Usher syndrome, Curr Opin Neurol, vol.22, pp.19-27, 2009.

W. J. Kimberling, M. S. Hildebrand, and A. E. Shearer, Frequency of Usher syndrome in two pediatric populations: implications for genetic screening of deaf and hard of hearing children, Genet Med, vol.12, pp.512-516, 2010.

F. P. Cremers, W. J. Kimberling, and M. Kulm, Development of a genotyping microarray for Usher syndrome, J Med Genet, vol.44, pp.153-160, 2007.

A. F. Roux, V. Faugère, L. Guédard, and 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, vol.43, pp.763-768, 2006.
URL : https://hal.archives-ouvertes.fr/hal-00113441

L. Guédard, S. Faugère, V. Malcolm, S. Claustres, M. Roux et al., Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome, Mol Vis, vol.13, pp.102-107, 2007.

L. Guédard-mereuze, S. Vaché, C. Baux, and D. , Ex vivo splicing assays of mutations at non-canonical positions of splice sites in USHER genes, Hum Mutat, vol.31, pp.347-355, 2010.

C. Vaché, T. Besnard, and C. Blanchet, Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome, Hum Mutat, vol.31, pp.734-741, 2010.

D. Baux, L. Larrieu, and C. Blanchet, Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients, Hum Mutat, vol.28, pp.781-789, 2007.

C. Blanchet, A. F. Roux, and C. Hamel, Usher type I syndrome in children: genotype/phenotype correlation and cochlear implant benefits (in French), Rev Laryngol Otol Rhinol (Bord), vol.128, pp.137-143, 2007.

D. Baux, V. Faugere, and L. Larrieu, UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes, Hum Mutat, vol.29, pp.76-87, 2008.
URL : https://hal.archives-ouvertes.fr/hal-01681852

T. Jaijo, E. Aller, and S. Oltra, Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I, Hum Mutat, vol.27, pp.290-291, 2006.

X. M. Ouyang, D. Yan, and L. L. Du, Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population, Hum Genet, vol.116, pp.292-299, 2005.

A. Adato, D. Weil, and H. Kalinski, 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, vol.61, pp.813-821, 1997.

G. Levy, F. Levi-acobas, and S. Blanchard, Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB, Hum Mol Genet, vol.6, pp.111-116, 1997.

M. D. Weston, P. M. Kelley, and L. D. Overbeck, Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients, Am J Hum Genet, vol.59, pp.1074-1083, 1996.

M. D. Weston, C. A. Carney, S. A. Rivedal, and W. J. Kimberling, Spectrum of MyosinVIIA mutations causing Usher Syndrome type 1b, Assoc Res Otolaryngol, p.181, 1998.

C. Najera, M. Beneyto, and J. Blanca, Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively, Hum Mutat, vol.20, pp.76-77, 2002.

S. Gerber, D. Bonneau, and B. Gilbert, USH1A: Chronicle of a slow death, Am J Hum Genet, vol.78, pp.357-359, 2006.

J. M. Cuevas, C. Espinos, and J. M. Millan, Identification of three novel mutations in the MYO7A gene, Hum Mutat, vol.14, p.181, 1999.

A. R. Janecke, M. Meins, and M. Sadeghi, Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity, Hum Mutat, vol.13, pp.133-140, 1999.

T. Jaijo, E. Aller, and M. Beneyto, MYO7A mutation screening in Usher syndrome type I patients from diverse origins, J Med Genet, vol.44, p.71, 2007.

A. K. Bharadwaj, J. P. Kasztejna, S. Huq, E. L. Berson, and T. P. Dryja, Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I, Exp Eye Res, vol.71, pp.173-181, 2000.

S. Riazuddin, S. Nazli, and Z. M. Ahmed, Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function, Hum Mutat, vol.29, pp.502-511, 2008.

B. Von-brederlow, H. Bolz, and A. Janecke, Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D, Hum Mutat, vol.19, pp.268-273, 2002.

L. M. Astuto, J. M. Bork, and M. D. Weston, CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness, Am J Hum Genet, vol.71, pp.262-275, 2002.

K. N. Alagramam, H. Yuan, and M. H. Kuehn, Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F, Hum Mol Genet, vol.10, pp.1709-1718, 2001.

Z. M. Ahmed, S. Riazuddin, and S. L. Bernstein, Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F, Am J Hum Genet, vol.69, pp.25-34, 2001.

M. Bitner-glindzicz, K. J. Lindley, and P. Rutland, A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the usher type 1C gene, Nat Genet, vol.26, pp.56-60, 2000.

E. Verpy, M. Leibovici, and I. Zwaenepoel, A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C, Nat Genet, vol.26, pp.51-55, 2000.

J. Lentz, S. Savas, S. S. Ng, G. Athas, P. Deininger et al., The USH1C 216G3 A splice-site mutation results in a 35-base-pair deletion, Hum Genet, vol.116, pp.225-227, 2005.

E. A. Otto, T. W. Hurd, and R. Airik, Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy, Nat Genet, vol.42, pp.840-850, 2010.

I. Ebermann, I. Lopez, M. Bitner-glindzicz, C. Brown, K. Koenekoop et al., Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population, Genome Biol, vol.8, p.47, 2007.

S. B. Ng, E. H. Turner, and P. D. Robertson, Targeted capture and massively parallel sequencing of 12 human exomes, Nature, vol.461, pp.272-276, 2009.

I. Ebermann, J. B. Phillips, and M. C. Liebau, PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome, J Clin Invest, vol.120, pp.1812-1823, 2010.
URL : https://hal.archives-ouvertes.fr/hal-02446252

L. Hartmann, S. Theiss, D. Niederacher, and H. Schaal, Diagnostics of pathogenic splicing mutations: does bioinformatics cover all bases?, Front Biosci, vol.13, pp.3252-3272, 2008.

M. Raponi and D. Baralle, Alternative splicing: good and bad effects of translationally silent substitutions, FEBS J, vol.277, pp.836-840, 2010.

A. B. Spurdle, F. J. Couch, F. B. Hogervorst, P. Radice, and O. M. Sinilnikova, Prediction and assessment of splicing alterations: implications for clinical testing, Hum Mutat, vol.29, pp.1304-1313, 2008.

J. Thusberg and M. Vihinen, Pathogenic or not? and if so, then how?-studying the effects of missense mutations using bioinformatics methods, Hum Mutat, vol.30, pp.703-714, 2009.

D. Weil, G. Levy, and I. Sahly, Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia, Proc Natl Acad Sci, vol.93, pp.3232-3237, 1996.

M. J. Cope, J. Whisstock, I. Rayment, K. , and J. , Conservation within the myosin motor domain: implications for structure and function, Structure, vol.15, pp.969-987, 1996.

X. Z. Liu, J. Walsh, and P. Mburu, Mutations in the myosin VIIA gene cause non-syndromic recessive deafness, Nat Genet, vol.16, pp.188-190, 1997.

Z. M. Ahmed, S. Riazuddin, and S. Aye, Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome, Hum Genet, vol.124, pp.215-223, 2008.

Q. Y. Zheng, D. Yan, and X. M. Ouyang, Digenic inheritance of deafness caused by mutations in the genes encoding cadherin 23 and protocadherin 15 in mice and humans, Hum Mol Genet, vol.14, pp.103-111, 2005.

E. Aller, T. Jaijo, and G. Garcia-garcia, Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome, Invest Ophthalmol Vis Sci, vol.51, pp.5480-5485, 2010.