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Article

OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2006

Han Jian, Thompson-Lowrey Angela J, Reiss Alyson, Mayorov Vladimir, Jia Haomiao, Biousse Valerie, Newman Nancy J, Brown Michael D

Abstract excerpt

PURPOSE: Autosomal dominant optic atrophy is a form of blindness, due in part to mutations affecting the mitochondrial-targeted OPA1 gene product. Both OPA1-positive and OPA1-negative families exhibit variable expressivity and incomplete penetrance. The purpose of this study was therefore to determine if the background mtDNA genotype acts as a genetic modifier for the expression of this disease. METHODS: To find...

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Share to DNA, Mitochondrial
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP Phosphohydrolases

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Share to Heterozygote

Share to Mutation, Missense

Share to Optic Atrophy, Autosomal Dominant

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 16617242
DOI: 10.1097/01.gim.0000214299.61930.c0

Genes

OPA1

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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