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The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

AbstractPURPOSE:
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.
AuthorsPatrizia Amati-Bonneau, Sylvie Odent, Christelle Derrien, Laurent Pasquier, Yves Malthiéry, Pascal Reynier, Dominique Bonneau
JournalAmerican journal of ophthalmology (Am J Ophthalmol) Vol. 136 Issue 6 Pg. 1170-1 (Dec 2003) ISSN: 0002-9394 [Print] United States
PMID14644237 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • GTP Phosphohydrolases
  • OPA1 protein, human
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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