Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss

Viviana Chinetti, Sandra Iossa, Gennaro Auletta, Carla Laria, Maria De Luca, Francesca Di Leva, Pasquale Riccardi, Pasquale Giannini, Paolo Gasparini, Alfredo Ciccodicola, Elio Marciano, Annamaria Franzè

Research output: Contribution to journalArticlepeer-review

Abstract

The aim of this study was to screen 349 patients affected by sensorineural hearing loss (SNHL), mostly from the Campania region (southern Italy), for GJB2 gene mutations and for two deletions of the GJB6 gene (del GJB6 -D13S1830 and del GJB6 -D13S1854). We identified pathogenetic GJB2 mutations in 51 cases (15% of patients). No GJB6 mutation was found. We also examined the audiologic features of the patients for whom we had an etiologic diagnosis, in order to identify correlations between the severity of hearing loss and the type of mutation.

Original languageEnglish
Pages (from-to)326-331
Number of pages6
JournalInternational Journal of Audiology
Volume49
Issue number4
DOIs
Publication statusPublished - 2010

Keywords

  • Campania Region
  • Connexin 26
  • Connexin 30
  • GJB2
  • GJB6
  • Hearing loss
  • Southern Italy

ASJC Scopus subject areas

  • Speech and Hearing

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