A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.
OBJECTIVE
To report a novel mutation of the OPA1 gene in a Japanese patient with optic atrophy and to describe the clinical features of the patient.


METHODS
Observational case report.


METHODS
Genomic DNA was extracted from leukocytes of four unrelated Japanese patients with optic atrophy. All the exons and splice sites of the OPA1 gene were amplified by polymerase chain reaction and directly sequenced.


RESULTS
One patient with optic atrophy had a heterozygous Arg445His mutation in the OPA1 gene. The Arg445His mutation was detected neither in 110 control subjects nor in the patient's healthy family members.


CONCLUSIONS
A novel mutation of the OPA1 gene, similar to those reported in Western countries, was detected in a Japanese patient with optic atrophy. Mutations of the OPA1 gene may contribute to the development of optic nerve atrophy in Japanese cases of optic atrophy.
Shimizu
Satoko
S
Department of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan. Stkshimi@aol.com
Mori
Naoki
N
Kishi
Mari
M
Sugata
Hirohisa
H
Tsuda
Akiko
A
Kubota
Nobue
N
D000293:Adolescent; D000328:Adult; D002648:Child; D004247:DNA / Q000032:analysis; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D029241:Optic Atrophy, Autosomal Dominant / Q000201:enzymology* / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D004247:DNA; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human