Identification of four novel connexin 26 mutations in non-syndromic deaf patients: Genotype-phenotype analysis in moderate cases

Viviana Dalamón, M. Florencia Wernert, Vanesa Lotersztein, Patricio O. Craig, Raúl Reynoso Diamante, María E. Barteik, Carlos Curet, Bibiana Paoli, Enrique Mansilla, Ana Belén Elgoyhen

Research output: Contribution to journalArticle

Abstract

This paper presents a mutation as well as a genotype-phenotype analysis of the GJB2 and GJB6 genes in 476 samples from non-syndromic unrelated Argentinean deaf patients (104 familial and 372 sporadic cases). Most of them were of prelingual onset (82 %) and 27 % were cochlear implanted. Variation of sequences was detected in 171 of the 474 patients (36 %). Overall, 43 different sequence variations were identified in GJB2 and GJB6. Four of them are reported for the first time in GJB2: c.233dupG, p.Ala78Ser, p.Val190Asp and p.Cys211Tyr. Mutations in GJB6 were detected in 3 % of patients [nine del(GJB6-D13S1830) and three del(GJB6-D13S1854)]. Of the 43 different variations identified in GJB2, 6 were polymorphisms and of the others, 10 (27 %) were truncating and 27 (73 %) were nontruncating. Patients with two truncating mutations had significantly worse hearing impairment than all other groups. Moderate phenotypes were observed in a group of patients carrying biallelic mutations (23 %). This work shows the high prevalence of GJB2 mutations in the Argentinean population and presents an analysis of moderate phenotypes in our cohort.

Original languageEnglish (US)
Pages (from-to)6945-6955
Number of pages11
JournalMolecular Biology Reports
Volume40
Issue number12
DOIs
StatePublished - Dec 2013
Externally publishedYes

Keywords

  • Autosomal recessive deafness
  • Connexin 26
  • Deafness
  • DFNB1
  • GJB2
  • GJB6
  • Hearing loss
  • Moderate hearing loss
  • Molecular study
  • Novel mutations

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology

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