title: Nonsyndromic hearing loss caused by a mitochondrial T7511C mutation.
abstract: OBJECTIVE
  The aims of the present study were to identify a mutation in a Japanese family showing nonsyndromic sensorineural hearing loss and to relate the mutation to characteristics of patients, including audiovestibular findings.
  
  
  METHODS
  Familial cohort study.
  
  
  METHODS
  Mutation analysis was performed using genomic DNA extracted from blood samples. Subjects underwent audiovestibular examinations, including pure-tone audiograms, tympanometry, self-recording audiometry, acoustic reflex threshold, speech discrimination testing, evoked and distortion-product otoacoustic emissions, auditory brainstem responses, and caloric testing.
  
  
  RESULTS
  We identified a T7511C mutation in the mitochondrial tRNA(Ser(UCN)) gene previously reported in one other family. The degree of heteroplasmy for the T7511C mutation ranged from 84% to 92%, and did not correlate with age at examination or severity of hearing loss. Extensive audiologic evaluation suggested both cochlear and retrocochlear involvement.
  
  
  CONCLUSIONS
  Families with maternally transmitted nonsyndromic hearing loss should be investigated for mutations in the tRNA(Ser(UCN)) gene.
authors.affiliation: Department of Otolaryngology, Jichi Medical School, Minamikawachi, Tochigi, Japan. kotaro@jichi.ac.jp
authors.forename: Kotaro
authors.initials: K
authors.lastname: Ishikawa
authors.forename: Yuya
authors.initials: Y
authors.lastname: Tamagawa
authors.forename: Katsumasa
authors.initials: K
authors.lastname: Takahashi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kimura
authors.forename: Jun
authors.initials: J
authors.lastname: Kusakari
authors.forename: Akira
authors.initials: A
authors.lastname: Hara
authors.forename: Keiichi
authors.initials: K
authors.lastname: Ichimura
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
chemical_list: D004272:DNA, Mitochondrial