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 language||English (US)|
|Number of pages||5|
|Journal||American journal of medical genetics|
|State||Published - Nov 1 2001|
- Aminoglycoside antibiotics
- Non-syndromic hearing impairment
ASJC Scopus subject areas