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Article

Low penetrance of hearing loss in two Chinese families carrying the mitochondrial tRNASer(UCN) mutations.

Molecular medicine reports - 1 Jul 2020

Peng Wei, Zhong Yi, Zhao Xueyan, Yuan Jie

Abstract excerpt

Mutations in mitochondrial DNA (mtDNA), especially in mitochondrial 12S rRNA and transfer RNA(tRNA)Ser(UCN) genes, are important causes of non‑syndromic hearing loss. However, the molecular mechanism underlying mt‑tRNA mutations in clinical hearing impairment are not fully understood. The present study assessed the molecular characterization of two Chinese families with non‑syndromic hearing loss, who both...

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Identifiers

PMID: 32377700
DOI: 10.3892/mmr.2020.11100
PMCID: PMC7248462

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