The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.
OBJECTIVE
To examine the involvement of the optic atrophy 1 (OPA1) gene in optic atrophy associated with moderate deafness.


METHODS
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.


CONCLUSIONS
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.
Amati-Bonneau
Patrizia
P
INSERM E0018 et Laboratoire de Biochimie et Biologie moléculaire, CHU Angers, Angers, France. pabonneau@chu-angers.fr
Odent
Sylvie
S
Derrien
Christelle
C
Pasquier
Laurent
L
Malthiéry
Yves
Y
Reynier
Pascal
P
Bonneau
Dominique
D
D000328:Adult; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D009154:Mutation; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics*; D016133:Polymerase Chain Reaction
D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human