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Article

Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.

Molecular genetics and metabolism - 1 May 2010

Tang Xiaowen, Li Ronghua, Zheng Jing, Cai Qin, Zhang Ting, Gong Shasha, Zheng Wuwei, He Xiumei, Zhu Yi, Xue Ling, Yang Aifen, Yang Li, Lu Jianxin, Guan Min-Xin

Abstract excerpt

Mutations in mitochondrial DNA (mtDNA) have been found to be one of the most important causes of sensorineural hearing loss. We report here a clinical, genetic, molecular and biochemical characterization of a Han Chinese pedigree with maternally transmitted nonsyndromic hearing impairment. Seven of nine matrilineal relatives exhibited a variable severity and age-at-onset (8 years old) of hearing loss. Mutational...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20153673
DOI: 10.1016/j.ymgme.2010.01.008

Genes

UCN
GJB2
TRMU

Provenance

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