[An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs].
BACKGROUND
In 1961, Garcin et al. described a family with several members affected with optic atrophy associated with cataract, and neurological symptoms. The authors believed this condition to be distinct from other diseases known at that time, e.g. the Behr syndrome, Marinesco-Sjogren syndrome and Friedreich's ataxia.


METHODS
This family was followed over a period of 40 years and genes known to be responsible for optic atrophy were sequenced.


RESULTS
The G277A mutation of OPA3 gene was responsible for this familial disease.


CONCLUSIONS
A new clinical entity is identified: autosomal dominant optic atrophy and cataract, due to a heterozygous mutation of the OPA3 gene, a nuclear gene encoding a mitochondrial protein.
Verny
C
C
Département de Neurologie, Centre Hospitalier Universitaire, Paris. Chverny@chu-angers.fr
Amati-Bonneau
P
P
Dubas
F
F
Malthiéry
Y
Y
Reynier
P
P
Bonneau
D
D
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001480:Basal Ganglia Diseases / Q000150:complications / Q000235:genetics*; D002386:Cataract / Q000150:complications / Q000235:genetics*; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*
C443108:OPA3 protein, human; D011506:Proteins