title: Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.
abstract: OBJECTIVE
  To describe the clinical and genetic characteristics of three Japanese families with autosomal dominant retinitis pigmentosa (ADRP) associated with mutations in the PRPF31 gene.
  
  
  METHODS
  Case reports and results of DNA analysis.
  
  
  METHODS
  Mutational screening of the PRPF31 gene was performed on 96 unrelated patients with ADRP by direct sequencing. The clinical features were characterized by complete ophthalmologic examinations.
  
  
  RESULTS
  Three mutations in the PRPF31 gene, designated as 1142delG, 1155-1159delGGACG/insAGGGATT, and IVS6 to 3 to -45del, were identified in three unrelated Japanese families with ADRP. The 1142delG and 1155-1159delGGACG/insAGGGATT mutations are novel. The phenotype of affected family members was typical of retinitis pigmentosa (RP). Additionally, we identified asymptomatic obligate carriers.
  
  
  CONCLUSIONS
  The 1142delG and 1155-1159delGGACG/insAGGGATT mutations in the PRPF31 gene cause RP. The prevalence of mutations in the PRPF31 gene in Japanese patients with ADRP is approximately 3%. However, it is important to note that there are asymptomatic obligate carriers.
authors.affiliation: Department of Ophthalmology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan. hasato@oph.med.tohoku.ac.jp
authors.forename: Hajime
authors.initials: H
authors.lastname: Sato
authors.forename: Yuko
authors.initials: Y
authors.lastname: Wada
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Itabashi
authors.forename: Makoto
authors.initials: M
authors.lastname: Nakamura
authors.forename: Miyuki
authors.initials: M
authors.lastname: Kawamura
authors.forename: Makoto
authors.initials: M
authors.lastname: Tamai
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D009154:Mutation; D010375:Pedigree; D012322:RNA Precursors / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*
chemical_list: D005136:Eye Proteins; C454222:PRPF31 protein, human; D012322:RNA Precursors