Ontology highlight
ABSTRACT:
SUBMITTER: Hutchin TP
PROVIDER: S-EPMC1734692 | biostudies-other | 2000 Sep
REPOSITORIES: biostudies-other
Journal of medical genetics 20000901 9
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 ...[more]