A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family

• Published in: Brazilian journal of medical and biological research Vol. 42; no. 2; pp. 168 - 171
• Main Authors: Batissoco, A C, Auricchio, M T B M, Kimura, L, Tabith-Junior, A, Mingroni-Netto, R C
• Format: Journal Article
• Language: English; Portuguese
• Published: Brazil Associação Brasileira de Divulgação Científica 01.02.2009
• Subjects: BIOLOGY; Brazil; c.227C>T; Child; Child, Preschool; Connexin 26; Connexins - genetics; Deafness - ethnology; Deafness - genetics; Family; Female; Genes, Recessive - genetics; GJB2 gene; Hearing impairment; Humans; Male; MEDICINE, RESEARCH & EXPERIMENTAL; Mutation, Missense - genetics; p.L76P; GJB2 gene; Connexin 26; p.L76P; c.227C>T; Hearing impairment

Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound heterozygosity with a c.35delG mutation, in two Brazilian sibs, one presenting mild...