Abstract | PURPOSE: To examine the involvement of the optic atrophy 1 (OPA1) gene in optic atrophy associated with moderate deafness. DESIGN: Observational case report. The entire coding sequence of the OPA1 gene was directly sequenced in the case of a patient suffering from optic atrophy associated with moderate deafness. RESULTS: A de novo heterozygous mutation R445H in the OPA1 gene was found. No similar mutation was detected in either of the patient's parents or in the 100 chromosome controls. CONCLUSION: The R445H mutation in OPA1 might be the cause of the association between dominant optic atrophy and moderate deafness, a phenotype that may be currently underdiagnosed.
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Authors | Patrizia Amati-Bonneau, Sylvie Odent, Christelle Derrien, Laurent Pasquier, Yves Malthiéry, Pascal Reynier, Dominique Bonneau |
Journal | American journal of ophthalmology
(Am J Ophthalmol)
Vol. 136
Issue 6
Pg. 1170-1
(Dec 2003)
ISSN: 0002-9394 [Print] United States |
PMID | 14644237
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- GTP Phosphohydrolases
- OPA1 protein, human
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Topics |
- Adult
- DNA Mutational Analysis
- Deafness
(genetics)
- Female
- GTP Phosphohydrolases
(genetics)
- Genes, Dominant
- Humans
- Mutation
- Optic Atrophy, Autosomal Dominant
(genetics)
- Polymerase Chain Reaction
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