A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family

Maria Stella Alemanno, Elona Cama, Rosamaria Santarelli, Massimo Carella, Leopoldo Zelante, Luisa Toffolatti, Teresa Palladino, Salvatore Melchionda, Edoardo Arslan

Research output: Contribution to journalArticlepeer-review

Abstract

Nonsyndromic sensorineural hearing impairment is inherited in a predominantly autosomal recessive manner in up to 70% of cases. The gene more often involved is GJB2, encoding the gap junction protein Connexin 26. We report here a novel missense mutation in the GJB2 gene found in a Tunisian family. A homozygous change C/G at nucleotide 263 was detected in the 4-year-old girl of this family, affected by congenital moderate hearing loss. This transversion leads to the replacement of a highly conserved alanine with glycine at codon 88 (A88G). The consanguineous parents of the child are healthy carriers of the mutation.

Original languageEnglish
Pages (from-to)127-131
Number of pages5
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume73
Issue number1
DOIs
Publication statusPublished - Jan 2009

Keywords

  • Autosomal recessive hearing loss
  • Connexin 26
  • Consanguinity
  • GJB2
  • Novel mutation

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Pediatrics, Perinatology, and Child Health

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