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

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.

• Authors: S Abe, P M Kelley, W J Kimberling, S I Usami
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 103 Issue 4 Pg. 334-8 (Nov 01 2001) ISSN: 0148-7299 [Print] United States
• PMID: 11746015 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2001 Wiley-Liss, Inc.

Chemical References

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

Topics

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