title: 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.affiliation: Department of Otorhinolaryngology, Hirosaki University School of Medicine, Hirosaki, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Abe
authors.forename: P M
authors.initials: PM
authors.lastname: Kelley
authors.forename: W J
authors.initials: WJ
authors.lastname: Kimberling
authors.forename: S I
authors.initials: SI
authors.lastname: Usami
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006316:Hearing Loss, High-Frequency / Q000453:epidemiology / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D000072259:Connexin 26