Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients

Hearing Research
W F BurkeT Lenarz

Abstract

Mutations in the GJB2 gene are known to represent the commonest cause of hereditary and congenital hearing loss. In this study, a complete sequencing of the GJB2 gene in a cohort of 506 patients from a single, large cochlear implant program in Europe was performed. Audiological testing for those patients who could actively participate was performed using pure tone audiometry (PTA). Those unable to undergo PTA were measured using click-auditory brainstem response (ABR). Data analysis was performed to determine genotype-phenotype correlations of the mutational status vs. audiological profiles and vs. age at the time of presentation. An overall prevalence of biallelic mutations of 13.4% was found for the total collective. When subsets of younger patients were examined, the prevalence increased to 27% of those up to age 18 and 35% of those up to age 5 at the time of testing, respectively. This increase was found to be highly significant (p < 0.001). Analysis of the mean PTA thresholds revealed a strong correlation between allele combination status and mean PTA (p = 0.021). The prevalence of simple heterozygotes was found to be approximately 10.1%, which is around 3.3 times the value expected in the general population. As GJB2 follo...Continue Reading

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Citations

Mar 30, 2017·HNO·A RoemerA Warnecke
Jan 10, 2018·Frontiers in Molecular Neuroscience·Francisco J Del Castillo, Ignacio Del Castillo
Dec 12, 2018·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Guillaume JouretAnne-Sophie Lebre
Dec 7, 2019·Indian Dermatology Online Journal·Neel PrabhaNitin M Nagarkar
Feb 17, 2017·HNO·A RoemerA Warnecke

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