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

Am J Med Genet. 2001 Nov 1;103(4):334-8.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Connexin 26
  • Connexins / genetics*
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Gene Frequency
  • Genotype
  • Hearing Loss, High-Frequency / epidemiology
  • Hearing Loss, High-Frequency / genetics*
  • Hearing Loss, Sensorineural / epidemiology
  • Hearing Loss, Sensorineural / genetics*
  • Heterozygote
  • Humans
  • Mutation*
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length


  • Connexins
  • DNA, Mitochondrial
  • GJB2 protein, human
  • Connexin 26