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Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
- Source :
-
Human mutation [Hum Mutat] 2003 Jun; Vol. 21 (6), pp. 656. - Publication Year :
- 2003
-
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&#95;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.<br /> (Copyright 2003 Wiley-Liss, Inc.)
- Subjects :
- Alternative Splicing
Codon, Nonsense
DNA chemistry
DNA genetics
DNA Mutational Analysis
Humans
Mutagenesis, Insertional
Mutation, Missense
Optic Atrophy enzymology
Optic Atrophy pathology
Optic Atrophy, Autosomal Dominant enzymology
Optic Atrophy, Autosomal Dominant pathology
Phenotype
Sequence Deletion
GTP Phosphohydrolases genetics
Mutation
Optic Atrophy genetics
Optic Atrophy, Autosomal Dominant genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1098-1004
- Volume :
- 21
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Human mutation
- Publication Type :
- Academic Journal
- Accession number :
- 14961560
- Full Text :
- https://doi.org/10.1002/humu.9152