Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.
OBJECTIVE
To report novel mutations in the GRK1 gene in Japanese patients with Oguchi disease.


METHODS
Observational case report.


METHODS
Two unrelated Japanese patients with Oguchi disease were examined. After informed consent was obtained, the coding regions of SAG and GRK1 were analyzed by direct sequencing.


RESULTS
Although no mutation was found in SAG, two novel homozygous mutations in GRK1, c.1079 del T and c.1408-1412 CCCCC to CCC, were identified. Both mutations are expected to generate null alleles of GRK1.


CONCLUSIONS
The authors found two different novel mutations in Japanese patients. The results indicate that a considerable number of GRK1 mutations exist in the Japanese population.
Oishi
Akio
A
Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Sakyo-ku, Kyoto, Japan.
Akimoto
Masayuki
M
Kawagoe
Naoaki
N
Mandai
Michiko
M
Takahashi
Masayo
M
Yoshimura
Nagahisa
N
D000293:Adolescent; D019393:Arrestin / Q000235:genetics; D044466:Asian People; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D016368:Frameshift Mutation; D051606:G-Protein-Coupled Receptor Kinase 1 / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D009755:Night Blindness / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D058609:Visual Field Tests
D019393:Arrestin; D051606:G-Protein-Coupled Receptor Kinase 1; C496764:GRK1 protein, human