RT Journal Article SR Electronic T1 A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairment JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 692 OP 694 DO 10.1136/jmg.37.9.692 VO 37 IS 9 A1 Hutchin, Tim P A1 Parker, Mick J A1 Young, Ian D A1 Davis, Adrian C A1 Pulleyn, Louise J A1 Deeble, Jayne A1 Lench, Nicholas J A1 Markham, Alex F A1 Mueller, Robert F YR 2000 UL http://jmg.bmj.com/content/37/9/692.abstract AB 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 tRNASer(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 tRNASer(UCN) gene, two having been shown to affect tRNASer(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.