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Article

Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.

Molecular genetics and metabolism - 1 Apr 2010

Tong Yi, Sun Yan-Hong, Zhou Xiangtian, Zhao Fuxin, Mao Yijian, Wei Qi-ping, Yang Li, Qu Jia, Guan Min-Xin

Abstract excerpt

We report here the clinical, genetic, and molecular characterization of five Han Chinese families with Leber's hereditary optic neuropathy (LHON). Strikingly, there were very low penetrances of visual impairment in these Chinese families, ranging from 4.2% to 22.2%, with an average of 10.2%. In particular, only 7 (4 males/3 females) of 106 matrilineal relatives in these families exhibited the variable severity...

Topics

Adolescent
Adult
Age of Onset
Asian People
DNA, Mitochondrial
Female
Haplotypes
Humans
Male
Mutation
NADH Dehydrogenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Optic Atrophy, Hereditary, Leber

Pedigree

Penetrance

Vision, Low

Source

Open in PubMed Open full text

Identifiers

PMID: 20053576
DOI: 10.1016/j.ymgme.2009.12.004
PMCID: PMC2839065

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-20053576-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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