title: A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment.
abstract: We describe a family with non-syndromic sensorineural hearing impairment inherited in a manner consistent with maternal transmission. Affected members were found to have a novel heteroplasmic mtDNA mutation, T7510C, in the tRNA(Ser(UCN)) gene. This mutation was not found in 661 controls, is well conserved between species, and disrupts base pairing in the acceptor stem of the tRNA, making it the probable cause of hearing impairment in this family. Sequencing of the other mitochondrial tRNA genes did not show any other pathogenic mutations. Four other mutations causing hearing impairment have been reported in the tRNA(Ser(UCN)) gene, two having been shown to affect tRNA(Ser(UCN)) levels. With increasing numbers of reports of mtDNA mutations causing hearing impairment, screening for such mutations should be considered in all cases unless mitochondrial inheritance can be excluded for certain.
authors.affiliation: Molecular Medicine Unit, St James's University Hospital, Leeds LS9 7TF, UK. t.p.hutchin@leeds.ac.uk
authors.forename: T P
authors.initials: TP
authors.lastname: Hutchin
authors.forename: M J
authors.initials: MJ
authors.lastname: Parker
authors.forename: I D
authors.initials: ID
authors.lastname: Young
authors.forename: A C
authors.initials: AC
authors.lastname: Davis
authors.forename: L J
authors.initials: LJ
authors.lastname: Pulleyn
authors.forename: J
authors.initials: J
authors.lastname: Deeble
authors.forename: N J
authors.initials: NJ
authors.lastname: Lench
authors.forename: A F
authors.initials: AF
authors.lastname: Markham
authors.forename: R F
authors.initials: RF
authors.lastname: Mueller
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D005192:Family Health; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009690:Nucleic Acid Conformation; D010375:Pedigree; D017354:Point Mutation; D012362:RNA, Transfer, Ser / Q000737:chemistry / Q000235:genetics*; D016415:Sequence Alignment; D012689:Sequence Homology, Nucleic Acid
chemical_list: D004272:DNA, Mitochondrial; D012362:RNA, Transfer, Ser