title: Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa.
abstract: OBJECTIVE
  To determine the presence and frequency of mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa (ADRP), and to characterize the clinical characteristics of patients with the Lys238Arg mutation in the IMPDH1 gene.
  
  
  METHODS
  Case reports and results of DNA analysis.
  
  
  METHODS
  All 14 coding exons of the IMPDH1 gene were directly sequenced in 96 unrelated patients with ADRP. The clinical features were determined by visual acuity, slit-lamp biomicroscopy, and kinetic visual field tests.
  
  
  RESULTS
  Two novel mutations, a Leu227Pro and Lys238Arg, in the IMPDH1 gene were identified in two unrelated families with ADRP. The clinical features associated with the Lys238Arg mutation were an early-onset and severe retinal degeneration.
  
  
  CONCLUSIONS
  The most commonly reported Asp226Asn mutation was not found in the Japanese population, instead two novel mutations were found. These findings suggest that mutations of the IMPDH1 gene cause ADRP in the Japanese population.
authors.affiliation: Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan. yukow@oph.med.tohoku.ac.jp
authors.forename: Yuko
authors.initials: Y
authors.lastname: Wada
authors.forename: Asako
authors.initials: A
authors.lastname: Tada
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Itabashi
authors.forename: Miyuki
authors.initials: M
authors.lastname: Kawamura
authors.forename: Hajime
authors.initials: H
authors.lastname: Sato
authors.forename: Makoto
authors.initials: M
authors.lastname: Tamai
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005820:Genetic Testing; D006801:Humans; D007168:IMP Dehydrogenase / Q000235:genetics*; D007564:Japan; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000208:ethnology / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014792:Visual Acuity; D014794:Visual Fields
chemical_list: D007168:IMP Dehydrogenase; C488211:IMPDH1 protein, human