Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness

• Authors: F. Alexandrino , C.A. Oliveira , F.C. Reis , A.T. Maciel-Guerra , E.I. Sartorato
• Languages of publication: EN

Abstracts

EN

Deafness is a complex disorder that is affected by a high number of genes and environmental factors. Recently, enormous progress has been made in nonsyndromic deafness research, with the identification of 90 loci and 33 nuclear and 2 mitochondrial genes involved (http://dnalab-www.uia.ac.be/dnalab/hhh/). Mutations in the GJB3 gene, encoding the gap junction protein connexin 31 (Cx31), have been pathogenically linked to erythrokeratodermia variabilis and nonsyndromic autosomal recessive or dominant hereditary hearing impairment. To determine the contribution of the GJB3 gene to sporadic deafness, we analysed the GJB3 gene in 67 families with nonsyndromic hearing impairment. A single coding exon of the GJB3 gene was amplified from genomic DNA and then sequenced. Here we report on three amino acid changes: Y177D (c.529T > G), 49delK (c.1227C > T), and R32W (c.144-146delGAA). The latter substitution has been previously described, but its involvement in hearing impairment remains uncertain. We hypothesize that mutations in the GJB3 gene are an infrequent cause of nonsyndromic deafness.

Keywords

EN

CONNEXIN 31; DEAFNESS; GENE MUTATION; HEARING IMPAIRMENT

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2004
• Volume: 45
• Issue: 2
• Pages: 249-254

Contributors

author

F. Alexandrino

author

C.A. Oliveira

author

F.C. Reis

author

A.T. Maciel-Guerra

author

E.I. Sartorato

• Document Type: ARTICLE
• Publication order reference: E.L. Sartorato, UNICAMP/CBMEG ? Cidade, Universit?ria Zeferino Vaz, Barno Geraldo, Campinas ? Sno Paulo, Zip code: 13083-970, Brazil