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Article

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

Human molecular genetics - 15 Jun 2001

Toomes C, Marchbank N J, Mackey D A, Craig J E, Newbury-Ecob R A, Bennett C P, Vize C J, Desai S P, Black G C, Patel N, Teimory M, Markham A F, Inglehearn C F, Churchill A J

Abstract excerpt

Dominant optic atrophy (DOA) is the commonest form of inherited optic neuropathy. Although heterogeneous, a major locus has been mapped to chromosome 3q28 and the gene responsible, OPA1, was recently identified. We therefore screened a panel of 35 DOA patients for mutations in OPA1. This revealed 14 novel mutations and a further three known mutations, which together accounted for 20 of the 35 families (57%)...

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Source

Identifiers

PMID: 11440989
DOI: 10.1093/hmg/10.13.1369

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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