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A novel dominant missense mutation – D179N – in the GJB2 gene (Connexin 26) associated with non‐syndromic hearing loss
Author(s) -
Primignani P,
Castorina P,
Sironi F,
Curcio C,
Ambrosetti U,
Coviello DA
Publication year - 2003
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2003.00079.x
Subject(s) - missense mutation , genetics , hearing loss , mutation , connexin , gene , congenital hearing loss , biology , compound heterozygosity , medicine , sensorineural hearing loss , audiology , gap junction , intracellular
Mutations of the GJB2 gene, encoding Connexin 26, are the most common cause of hereditary congenital hearing loss in many countries, and account for up to 50% of cases of autosomal‐recessive non‐syndromic deafness. By contrast, only a few GJB2 mutations have been reported to cause an autosomal‐dominant form of non‐syndromic deafness. We report on a family from southern Italy in whom dominant, non‐syndromic, post‐lingual hearing loss is associated with a novel missense mutation in the GJB2 gene. Direct sequencing of the gene showed a heterozygous G→A transition at nucleotide 535, resulting in an aspartic acid to asparagine amino acid substitution at codon 179 (D179N). This mutation occurred in the second extracellular domain (EC2), which would seem to be very important for connexon–connexon interaction.