Autosomal Dominant Hearing Loss resulting from p.R75Q Mutation in the GJB2 Gene: Nonsyndromic presentation in a South Indian Family

作者：Pavithra Amritkumar; Selvakumari Mathiyalagan; Nityaa Venkatesan; Sharanya Narasimhan; Ramakrishnan Rajagopalan; Narasimhan Murali; Srisailapathy C R Srikumari^*

来源：Annals of Human Genetics, 2015, 79(1): 76-82.

DOI：10.1111/ahg.12086

• GJB2 mutations
• autosomal dominant
• assortative mating
• p
• R75Q mutation
• nonsyndromic hearing loss
• palmoplantar keratoderma
• south India

Mutations in the GJB2 gene encoding the gap junction protein Connexin 26 have been associated with autosomal recessive as well as dominant nonsyndromic hearing loss. Owing to the involvement of connexins in skin homeostasis, GJB2 mutations have also been associated with syndromic forms of hearing loss showing various skin manifestations. We report an assortatively mating hearing impaired family of south Indian origin with three affected members spread over two generations, having p.R75Q mutation in the GJB2 gene in the heterozygous condition. The inheritance pattern was autosomal dominant with mother and son being affected. Dermatological and histopathologic examinations showed absence of palmoplantar keratoderma. To the best of our knowledge, this is the first report from India on p.R75Q mutation in the GJB2 gene with nonsyndromic hearing loss.

• 出版日期2015-1