title: Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.
abstract: 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.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Sakyo-ku, Kyoto, Japan.
authors.forename: Akio
authors.initials: A
authors.lastname: Oishi
authors.forename: Masayuki
authors.initials: M
authors.lastname: Akimoto
authors.forename: Naoaki
authors.initials: N
authors.lastname: Kawagoe
authors.forename: Michiko
authors.initials: M
authors.lastname: Mandai
authors.forename: Masayo
authors.initials: M
authors.lastname: Takahashi
authors.forename: Nagahisa
authors.initials: N
authors.lastname: Yoshimura
mesh_terms: 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
chemical_list: D019393:Arrestin; D051606:G-Protein-Coupled Receptor Kinase 1; C496764:GRK1 protein, human