Ontology highlight
ABSTRACT:
SUBMITTER: Bicego M
PROVIDER: S-EPMC2829448 | biostudies-literature | 2006 Sep
REPOSITORIES: biostudies-literature
Bicego Massimiliano M Beltramello Martina M Melchionda Salvatore S Carella Massimo M Piazza Valeria V Zelante Leopoldo L Bukauskas Feliksas F FF Arslan Edoardo E Cama Elona E Pantano Sergio S Bruzzone Roberto R D'Andrea Paola P Mammano Fabio F
Human molecular genetics 20060718 17
Mutations in the GJB2 gene, which encodes the gap junction protein connexin26 (Cx26), are the major cause of genetic non-syndromic hearing loss. The role of the allelic variant M34T in causing hereditary deafness remains controversial. By combining genetic, clinical, biochemical, electrophysiological and structural modeling studies, we have re-assessed the pathogenetic role of the M34T mutation. Genetic and audiological data indicate that the majority of heterozygous carriers and all five compou ...[more]