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Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss
Battelino, Saba ...
Objective: Mutations in the gap junction protein beta-2 gene (ŽGJB2ʼ) are known to be responsible for mild to profound congenital and late-onset hearingloss. This study aimed to investigate the ...molecular basis of progressive hearing loss compared with non-progressive hearing loss. Methods: Following clinical otorhinolaryngological evaluation, a genetic analysis was performed in a cohort of 72 patients with progressive sensorineural hearing loss. Results: Pathological genotypes were established in 16 patients (22.2 per cent). Six different gap junction protein beta-2 gene mutations were detected in 15 patients, with the c.35delG mutation responsible for 56 per cent of the mutated alleles. A novel gap junction protein beta-6 gene (ŽGJB6ʼ)mutation (p.Met203Val) was observed in one patient with mild progressive hearing loss. Conclusion: Analyses of gap junction protein beta-2 and -6 genes revealed that similar pathological genotypes, occurring with similar frequencies, were responsible for progressive hearing loss, compared with reported genotypes for non-progressive hearing loss patients. Thus, genotype cannot be used to differentiate non-progressive from progressive hearing loss cases; in this study, patients both with and without an established pathological genotype had a similar clinical course.
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