Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Marlin, S. et al.

Marlin, Feldmann, Blons, Loundon, Rouillon, Albert, Chauvin, Garabédian, Couderc, Odent, Joannard, Schmerber, Delobel, Leman, Journel, Catros, Lemarechal, Dollfus, Eliot, Delaunoy, David, Calais, Drouin-Garraud, Obstoy, Goizet, Duriez, Fellmann, Hélias, Vigneron, Montaut, Matin-Coignard, Faivre, Baumann, Lewin, Petit, Denoyelle,

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

OBJECTIVES: To analyze the clinical features of hearing impairment and to search for correlations with the genotype in patients with DFNB1. DESIGN: Case series. SETTING: Collaborative study in referral centers, institutional practice.Patients A total of 256 hearing-impaired patients selected on the basis of the presence of biallelic mutations in GJB2 or the association of 1 GJB2 mutation with the GJB6 deletion (GJB6-D13S1830)del. MAIN OUTCOME MEASURES: The prevalence of GJB2 mutations and the GJB6 deletion and audiometric phenotypes related to the most frequent genotypes. RESULTS: Twenty-nine different GJB2 mutations were identified. Allelic frequency of 35delG was 69%, and the other common mutations, 313del14, E47X, Q57X, and L90P, accounted for 2.6% to 2.9% of the variants. Concerning GJB6, (GJB6-D13S1830)del accounted for 5% of all mutated alleles and was observed in 25 of 93 compound heterozygous patients. Three novel GJB2 mutations, 355del9, V95M, and 573delCA, were identified. Hearing impairment was frequently less severe in compound heterozygotes 35delG/L90P and 35delG/N206S than in 35delG homozygotes. Moderate or mild hearing impairment was more frequent in patients with 1 or 2 noninactivating mutations than in patients with 2 inactivating mutations. Of 93 patients, hearing loss was stable in 73, progressive in 21, and fluctuant in 2. Progressive hearing loss was more frequent in patients with 1 or 2 noninactivating mutations than in those with 2 inactivating mutations. In 49 families, hearing loss was compared between siblings with similar genotypes, and variability in terms of severity was found in 18 families (37%). CONCLUSION: Genotype may affect deafness severity, but environmental and other genetic factors may also modulate the severity and evolution of GJB2-GJB6 deafness.[1]

References

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Marlin, S., Feldmann, D., Blons, H., Loundon, N., Rouillon, I., Albert, S., Chauvin, P., Garabédian, E.N., Couderc, R., Odent, S., Joannard, A., Schmerber, S., Delobel, B., Leman, J., Journel, H., Catros, H., Lemarechal, C., Dollfus, H., Eliot, M.M., Delaunoy, J.L., David, A., Calais, C., Drouin-Garraud, V., Obstoy, M.F., Goizet, C., Duriez, F., Fellmann, F., Hélias, J., Vigneron, J., Montaut, B., Matin-Coignard, D., Faivre, L., Baumann, C., Lewin, P., Petit, C., Denoyelle, F. Arch. Otolaryngol. Head Neck Surg. (2005) [Pubmed]

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