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Article

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

Human mutation - 1 Jun 2003

Baris Olivier, Delettre Cécile, Amati-Bonneau Patrizia, Surget Marie-Odile, Charlin Jean-François, Catier Antoine, Derieux Laurence, Guyomard Jean-Laurent, Dollfus Hélène, Jonveaux Philippe, Ayuso Carmen, Maumenee Irene, Lorenz Birgit, Mohammed Shehla, Tourmen Yves, Bonneau Dominique, Malthièry Yves, Hamel Christian, Reynier Pascal

Abstract excerpt

The OPA1 gene, encoding a dynamin-related GTPase that plays a role in mitochondrial biogenesis, is implicated in most cases of autosomal dominant optic atrophy (ADOA). Sixty-nine pathogenic OPA1 mutations have been reported so far. Most of these are truncating mutations located in the GTPase domain coding region (exons 8-16) and at the 3'-end (exons 27-28). We screened 44 patients with typical ADOA using...

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Source

Identifiers

PMID: 14961560
DOI: 10.1002/humu.9152

Genes

OPA1

Variants

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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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