Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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.

Original publication

DOI

10.1136/jmg.37.9.692

Type

Journal article

Journal

J Med Genet

Publication Date

09/2000

Volume

37

Pages

692 - 694

Keywords

Base Sequence, DNA Mutational Analysis, DNA, Mitochondrial, Family Health, Female, Hearing Loss, Sensorineural, Humans, Male, Molecular Sequence Data, Mutation, Nucleic Acid Conformation, Pedigree, Point Mutation, RNA, Transfer, Ser, Sequence Alignment, Sequence Homology, Nucleic Acid