Molecular genetics applied to clinical practice: The Cx26 hearing impairment

Eva Orzan, R. Polli, M. Martella, C. Vinanzi, M. Leonardi, A. Murgia

Research output: Contribution to journalArticlepeer-review


Mutations in the Cx26/GJB2 gene account for a large proportion of pre-lingual hearing impairment with a prevalence up to 50% in autosomal recessive cases and a still undefined prevalence in sporadic cases. Ninety-four subjects affected by non-syndromal sensorineural hearing impairment (NSHI) were enrolled in the study. The patients had either a family history of childhood hearing deficit or represented sporadic cases. The risk of an acquired cause of the deficit has been carefully excluded. Audiological characteristics were investigated. Cx26 mutations were found in 50% of subjects. Seventy-three per cent of mutations in this gene were 35delG, with significant geographical variations. In 7% of the putative Cx26 alleles no mutations were detected either in the coding region or in the non-coding exon 1. Cx26 hearing impairment involves all frequencies, is of variable severity, and is very rarely progressive and most frequently symmetrical between the two ears. The high occurrence of this type of pre-lingual hearing impairment argues for modification of the protocols used to investigate the aetiology of childhood hearing impairment. Early screening for Cx26 mutations in all patients with non-syndromal familial and sporadic permanent childhood hearing impairment seems justified.

Original languageEnglish
Pages (from-to)291-295
Number of pages5
JournalBritish Journal of Audiology
Issue number5
Publication statusPublished - 1999


  • Cx26 mutations
  • Hereditary hearing impairment
  • Molecular analysis
  • Pre-lingual hearing impairment

ASJC Scopus subject areas

  • Otorhinolaryngology


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