title: Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.
abstract: OBJECTIVE
  To determine the frequency of peripherin/RDS (retinal degeneration slow) gene mutations in Japanese patients with retinal dystrophies.
  
  
  METHODS
  We analyzed the peripherin/RDS gene in 54 unrelated Japanese patients with retinal dystrophies. Genomic DNA was amplified by polymerase chain reaction (PCR) and the PCR products were sequenced. We also examined 100 healthy subjects, seeking mutations or variations of the peripherin/RDS gene.
  
  
  RESULTS
  Of the 54 Japanese patients, one with retinitis pigmentosa had a heterozygous C to T change at the second nucleotide at codon 210 of exon 2 (CCT to CTT/Pro210Leu) of the peripherin/RDS gene. None of the 100 individuals with normal fundi had the Pro210Leu mutation of the peripherin/RDS gene. Three variants of the peripherin/RDS gene (GTC to GTT/Val106Val, Glu304Gln, and Gly338Asp) were also found. The first variation (GTC to GTT/Val106Val) was silent. Two concurrent missense variations (Glu304Gln and Gly338Asp) were seen in 25.9% of the affected patients and in 29% of the healthy individuals.
  
  
  CONCLUSIONS
  A novel mutation (Pro210Leu) of the peripherin/RDS gene has been found in one Japanese patient with retinitis pigmentosa. The alterations of Val106Val, Glu304Gln, and Gly338Asp may be polymorphic variants in the Japanese population.
authors.affiliation: Department of Ophthalmology, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama, Japan.
authors.lastname: Budu
authors.forename: S
authors.initials: S
authors.lastname: Hayasaka
authors.forename: M
authors.initials: M
authors.lastname: Matsumoto
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.forename: X Y
authors.initials: XY
authors.lastname: Zhang
authors.forename: Y
authors.initials: Y
authors.lastname: Hayasaka
mesh_terms: D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D007564:Japan / Q000453:epidemiology; D007930:Leucine; D008297:Male; D008562:Membrane Glycoproteins; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D064531:Peripherins; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011392:Proline; D012162:Retinal Degeneration / Q000208:ethnology / Q000235:genetics*
chemical_list: D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D011392:Proline; D007930:Leucine