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Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

Authors :
Rabionet, Raquel
Zelante, Leopoldo
López-Bigas, Núria
D'Agruma, Leonardo
Melchionda, Salvatore
Restagno, Gabrielle
Arbonés, Maria Lourdes
Gasparini, Paolo
Estivill, Xavier
Source :
Human Genetics; Jan2000, Vol. 106 Issue 1, p40-44, 5p
Publication Year :
2000

Abstract

Mutations in the GJB2 gene have been identified in many patients with childhood deafness, 35delG being the most common mutation in Caucasoid populations. We have analyzed a total of 576 families/unrelated patients with recessive or sporadic deafness from Italy and Spain, 193 of them being referred as autosomal recessive, and the other 383 as apparently sporadic cases (singletons). Of the 1152 unrelated GJB2 chromosomes analyzed from these patients, 37% had GJB2 mutations. Twenty-three different mutations were detected (1 in-frame deletion, 4 nonsense, 5 frameshift, and 13 missense mutations). Mutation 35delG was the most common, accounting for 82% of all GJB2 deafness alleles. The relative frequency of 35delG in Italy and Spain was different, representing 88% of the alleles in Italian patients and only 55% in the Spanish cases. Eight non-35delG mutations were detected more than once (V37I, E47X, 167delT, L90P, 312del14, 334delAA, R143W, and R184P), with relative frequencies ranging between 0.5 and 1.6% of the GJB2 deafness alleles. The information based on conservation of amino acid residues, coexistence with a second GJB2 mutation or absence of the mutation in non-deaf control subjects, suggests that most of these missense changes should be responsible for the deafness phenotype. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
03406717
Volume :
106
Issue :
1
Database :
Complementary Index
Journal :
Human Genetics
Publication Type :
Academic Journal
Accession number :
16114945
Full Text :
https://doi.org/10.1007/s004390051007