title: Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial DNA.
abstract: The A1555G mutation in the mitochondrial 12S ribosomal RNA gene is often found in patients with hearing loss after aminoglycoside exposure. A second pathogenic mutation in this gene, deletion of thymidine at position 961 with varying numbers of cytosines inserted (delT961Cn), has recently been found to predispose patients to aminoglycoside-induced deafness. We report on a Japanese patient bearing the delT961Cn who had streptomycin-induced deafness. Our report suggests that the delT961Cn plays an important secondary role in the pathogenesis of deafness caused by aminoglycosides. The combination of taking family histories and molecular screening at the 1555 and 961 positions is thought to reduce the frequency of tragic irreversible deafness due to aminoglycosides.
authors.affiliation: Department of Otolaryngology, Sapporo Medical University, Sapporo, Japan. yoshidam@sapmed.ac.jp
authors.forename: Mizuki
authors.initials: M
authors.lastname: Yoshida
authors.forename: Tomoro
authors.initials: T
authors.lastname: Shintani
authors.forename: Motoyasu
authors.initials: M
authors.lastname: Hirao
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Himi
authors.forename: Akihiro
authors.initials: A
authors.lastname: Yamaguchi
authors.forename: Kokichi
authors.initials: K
authors.lastname: Kikuchi
mesh_terms: D000368:Aged; D000900:Anti-Bacterial Agents / Q000009:adverse effects*; D001301:Audiometry, Pure-Tone; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000139:chemically induced* / Q000175:diagnosis; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017354:Point Mutation / Q000235:genetics*; D012335:RNA, Ribosomal / Q000235:genetics; D012720:Severity of Illness Index; D013307:Streptomycin / Q000009:adverse effects*; D013936:Thymidine / Q000235:genetics*
chemical_list: D000900:Anti-Bacterial Agents; D004272:DNA, Mitochondrial; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; D013936:Thymidine; D013307:Streptomycin