A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment

• Published in: Journal of medical genetics Vol. 37; no. 9; pp. 692 - 694
• Main Authors: Hutchin, T P, Parker, M J, Young, I D, Davis, A C, Pulleyn, L J, Deeble, J, Lench, N J, Markham, A F, Mueller, R F
• Format: Journal Article
• Language: English
• Published: England 01-09-2000
• Subjects: Base Sequence; DNA Mutational Analysis; DNA, Mitochondrial - chemistry; DNA, Mitochondrial - genetics; Family Health; Female; Hearing Loss, Sensorineural - genetics; Hearing Loss, Sensorineural - pathology; Humans; Male; Molecular Sequence Data; Mutation; Nucleic Acid Conformation; Pedigree; Point Mutation; RNA, Transfer, Ser - chemistry; RNA, Transfer, Ser - genetics; Sequence Alignment; Sequence Homology, Nucleic Acid
• ISSN: 1468-6244
• DOI: 10.1136/jmg.37.9.692

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.