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Article

Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family.

Biochemical and biophysical research communications - 16 Jun 2006

Xing Guangqian, Chen Zhibin, Wei Qinjun, Tian Huiqin, Li Xiaolu, Zhou Aidong, Bu Xingkuan, Cao Xin

Abstract excerpt

We explored the clinical and molecular characterization of a Chinese family with non-syndromic hearing impairment. Clinical evaluations revealed a possible maternal inheritance pattern, and showed an extremely similar phenotype of hearing loss including the age of onset, severity, and audiometric configuration. Sequence analysis of the mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes led to the identification of a...

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Source

Identifiers

PMID: 16650816
DOI: 10.1016/j.bbrc.2006.04.033

Genes

GJB2
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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