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Article

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

Journal of medical genetics - 1 Sept 2000

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to Nucleic Acid Conformation

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Share to RNA, Transfer, Ser

Share to Sequence Alignment

Share to Sequence Homology, Nucleic Acid

Source

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Identifiers

PMID: 10978361
DOI: 10.1136/jmg.37.9.692
PMCID: PMC1734692

Genes

UCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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