Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A→G mitochondrial mutation

Satoko Abe, Philip M. Kelley, William J. Kimberling, Shin Ichi Usami

Research output: Contribution to journalArticle

74 Scopus citations

Abstract

We report a high prevalence of GJB2 heterozygous mutations in patients bearing the 1555A→G mitochondrial mutation, and describe a family in which potential interaction between GJB2 and a mitochondrial gene appears to be the cause of hearing impairment. Patients who are heterozygotes for the GJB2 mutant allele show hearing loss more severe than that seen in sibs lacking a mutant GJB2 allele, suggesting that heterozygous GJB2 mutations may synergistically cause hearing loss when in the presence of a 1555A→G mutation. The present findings indicate that GJB2 mutations may sometimes be an aggravating factor, in addition to aminoglycoside antibiotics, in the phenotypic expression of the non-syndromic hearing loss associated with the 1555A→G mitochondrial mutation.

Original languageEnglish (US)
Pages (from-to)334-338
Number of pages5
JournalAmerican journal of medical genetics
Volume103
Issue number4
DOIs
StatePublished - Nov 1 2001
Externally publishedYes

Keywords

  • Aminoglycoside antibiotics
  • Heterozygote
  • Non-syndromic hearing impairment

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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