Effects of GJB2 genotypes on the audiological phenotype: Variability is present for all genotypes (original) (raw)

2006, International journal of …

AI-generated Abstract

Background: Variability in auditory phenotypes associated with GJB2 mutations has been documented, but the influence of genetic background on hearing loss, especially in ethnically diverse populations, requires further exploration. Aim: To confirm previously suggested correlations between GJB2 genotypes and hearing phenotypes in a Turkish cohort. Methods: The study analyzed pure tone audiograms from 63 probands with various GJB2 mutations, comparing the degree of hearing loss among different genotypes. Results: Key findings included the identification of three prevalent GJB2 genotypes in the cohort. No significant differences in hearing loss severity were found when comparing these genotypes, attributed potentially to the small sample size. Significant intra-familial phenotypic variability was noted. Conclusion: The study suggests careful consideration of genotype-phenotype correlations in clinical contexts due to variability in hearing loss across all GJB2 genotypes.

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