GJB2 gene mutations in childhood deafness

Simón Angeli, René Utrera, Samar Dib, Edgar Chiossone, Carlos Naranjo, Oswaldo Henríquez, Magdalena Porta

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


The frequency of childhood deafness is estimated at 1:1,000 and at least half of these cases are genetic. Recently, mutations in the GJB2 gene have been found in a great number of familial and sporadic cases of congenital deafness in Caucasians. The most common mutation (70%) is the frameshift mutation of a single guanine in position 35 (35delG). More than 20 mutations in the GJB2 gene are associated with DFNB1, a prevalent type of autosomal recessive non-syndromic neurosensory deafness. Last year we initiated a systematic screening programme to evaluate the causes of deafness in the population of prelingually deaf children who are referred to our cochlear implant programme. All of the deaf children and their parents undergo a comprehensive medical review, directed to identify causes of acquired deafness and manifestations of syndromic hearing impairment. DNA is extracted from the blood of all of the children. The technique AS-PCR (allele-specific polymerase chain reaction) is used for the identification of the mutation 35delG. Screening for other GJB2 gene mutations is carried out by single-strand conformation polymorphisms (SSCP). Our results on the identification of DFNB1 will be presented, as well as a discussion on the implications of an aetiological diagnosis in cochlear implantation.

Original languageEnglish (US)
Pages (from-to)133-136
Number of pages4
JournalActa Oto-Laryngologica
Issue number2
StatePublished - Jan 1 2000


  • Cochlear implant
  • Connexin 26
  • Deafness
  • DFNB1
  • GJB2
  • Hereditary hearing loss

ASJC Scopus subject areas

  • Otorhinolaryngology


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