PURPOSE: To report novel mutations in the GRK1 gene in Japanese patients with Oguchi disease. DESIGN: 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.
PURPOSE: To report novel mutations in the GRK1 gene in Japanese patients with Oguchi disease. DESIGN: 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.
Authors: Maleeha Azam; Rob W J Collin; Muhammad Imran Khan; Syed Tahir Abbas Shah; Nadeem Qureshi; Muhammad Ajmal; Anneke I den Hollander; Raheel Qamar; Frans P M Cremers Journal: Mol Vis Date: 2009-09-05 Impact factor: 2.367
Authors: James A Poulter; Molly S C Gravett; Rachel L Taylor; Kaoru Fujinami; Julie De Zaeytijd; James Bellingham; Atta Ur Rehman; Takaaki Hayashi; Mineo Kondo; Abdur Rehman; Muhammad Ansar; Dan Donnelly; Carmel Toomes; Manir Ali; Elfride De Baere; Bart P Leroy; Nigel P Davies; Robert H Henderson; Andrew R Webster; Carlo Rivolta; Christina Zeitz; Omar A Mahroo; Gavin Arno; Graeme C M Black; Martin McKibbin; Sarah A Harris; Kamron N Khan; Chris F Inglehearn Journal: Hum Mutat Date: 2020-11-30 Impact factor: 4.700