title: Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.
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.
authors.affiliation: Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, L'Hospitalet, Barcelona, Spain.
authors.forename: N
authors.initials: N
authors.lastname: López-Bigas
authors.forename: R
authors.initials: R
authors.lastname: Rabionet
authors.forename: E
authors.initials: E
authors.lastname: Martínez
authors.forename: I
authors.initials: I
authors.lastname: Banchs
authors.forename: V
authors.initials: V
authors.lastname: Volpini
authors.forename: J M
authors.initials: JM
authors.lastname: Vance
authors.forename: M L
authors.initials: ML
authors.lastname: Arbonés
authors.forename: X
authors.initials: X
authors.lastname: Estivill
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D020506:Untranslated Regions / Q000235:genetics
chemical_list: D017630:Connexins; D020506:Untranslated Regions; C068044:GJB3 protein, human