Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.

doi:10.1016/j.ymgme.2010.04.013

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Article

Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.

Molecular genetics and metabolism - 1 Aug 2010

Zhou Xiangtian, Zhang Hongxing, Zhao Fuxin, Ji Yanchun, Tong Yi, Zhang Juanjuan, Zhang Yu, Yang Li, Qian Yaping, Lu Fan, Qu Jia, Guan Min-Xin

Abstract excerpt

We report here the clinical, genetics and molecular characterization of a five-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON). Strikingly, this family exhibits very high penetrance and occurrence of optic neuropathy. In particular, 25 (10 males/15 females) of 30 matrilineal relatives exhibited the variable severity, ranging from profound to mild of visual impairment. This penetrance...

Topics

Adolescent
Adult
Aged
Amino Acid Substitution
Asian People
Child
Child, Preschool
China
DNA Mutational Analysis
DNA, Mitochondrial
Ethnicity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Family

Female

Fundus Oculi

Humans

Male

Middle Aged

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 20627642
DOI: 10.1016/j.ymgme.2010.04.013
PMCID: PMC2906641

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-20627642-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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