GJB2 gene mutations are the most common cause of congenital hearing loss. These mutations generally cause non-progressive hearing loss. In the present study, we examined the relationship between genotypes and progressive hearing loss in 97 patients diagnosed with
GJB2 mutations. The genotype 235 delC, common among Asians, was the most frequent, while no 35 delG, common among Westerners, was observed. Of 41 patients, excluding those presenting with severe hearing loss from the beginning, hearing was measured twice or more at 1-year or longer intervals in 32. One apparent case and three suspected cases of advanced hearing loss were identified. No specific trend in genotypes was observed. Progressive hearing loss is rarely seen in patients with
GJB2 mutations. No specific genotype causing progressive hearing loss was identified. However, severe hearing loss significantly affects language development in infants. Hearing loss should be carefully followed up, given that it progresses in some cases with
GJB2 gene mutations.
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