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

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

Research output: Contribution to journalArticlepeer-review

Abstract

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 PCR-sequencing. We also tested 20 sporadic cases of bilateral optic atrophy compatible with ADOA. Of the 18 OPA1 mutations found, 14 have never been previously reported. The novel mutations include one nonsense mutation, 3 missense mutations, 6 deletions, one insertion and 3 exon-skipping mutations. Two of these are de novo mutations, which were found in 2 patients with sporadic optic atrophy. The recurrent c.2708_2711delTTAG mutation was found in 2 patients with a severe congenital presentation of the disease. These results suggest that screening for OPA1 gene mutations may be useful for patients with optic atrophy who have no affected relatives, or when the presentation of the disease is atypical as in the case of early onset optic atrophy.

Original languageEnglish (US)
Pages (from-to)656
Number of pages1
JournalHuman mutation
Volume21
Issue number6
DOIs
StatePublished - Jun 2003

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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