PT  - JOURNAL ARTICLE
AU  - Hutchin, Tim P
AU  - Parker, Mick J
AU  - Young, Ian D
AU  - Davis, Adrian C
AU  - Pulleyn, Louise J
AU  - Deeble, Jayne
AU  - Lench, Nicholas J
AU  - Markham, Alex F
AU  - Mueller, Robert F
TI  - A novel mutation in the mitochondrial tRNA<sup>Ser(UCN)</sup> gene in a family with non-syndromic sensorineural hearing impairment
AID  - 10.1136/jmg.37.9.692
DP  - 2000 Sep 01
TA  - Journal of Medical Genetics
PG  - 692--694
VI  - 37
IP  - 9
4099  - http://jmg.bmj.com/content/37/9/692.short
4100  - http://jmg.bmj.com/content/37/9/692.full
SO  - J Med Genet2000 Sep 01; 37
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.