Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene

Nria López-Bigas, Raquel Rabionet, Elisabeth Martínez, Isabel Banchs, Victor Volpini, Jeffery M. Vance, Maria Lourdes Arbonés, Xavier Estivill

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

Connexin31 (GJB3) has been associated with hearing impairment and erythrokeratodermia variabilis. We have analyzed this gene in samples from patients with peripheral neuropathies, deafness and controls and have found several single nucleotide polymorphisms (SNPs). In the noncoding exon 1 of GJB3 two small deletions, 581del2 and 632del4 (GenBank accession number AF052692), were found at frequencies of 30% and 14%, respectively. In exon 2 we found two amino acid changes, R32W (1227C-T) and V200I (1731G-A), and three nucleotide variants not affecting the amino acid sequence, 1610G-A, 1700C-T and 1931C-T. Most of these changes were found at similar frequencies in patients with deafness, patients with peripheral neuropathies and control subjects. V200I, 1700C-T and 1610G-A were found associated in three unrelated patients with deafness and in a fourth patient with peripheral neuropathy, but were not detected in control subjects.

Original languageEnglish (US)
Pages (from-to)481-482
Number of pages2
JournalHuman mutation
Volume15
Issue number5
DOIs
StatePublished - May 2000
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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