Novel Mutation in the GRK1 Gene in Japanee Patient With Oguchi Dieae

Purpoe To report novel mutation in the GRK1 gene in Japanee patient with Oguchi dieae. Deign Obervational cae report. Method Two unrelated Japanee patient with Oguchi dieae were examined. After informed conent wa obtained, the coding region of AG and GRK1 were analyzed by direct equencing. Reult Although no mutation wa found in AG, two novel homozygou mutation in GRK1, c.1079 del T and c.1408-1412 CCCCC to CCC, were identified. Both mutation are expected to generate null allele of GRK1. Concluion The author found two different novel mutation in Japanee patient. The reult indicate that a coniderable number of GRK1 mutation exit in the Japanee population.