title: A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa.
abstract: We have screened for possible disease-causing mutations in the peripherin/retinal degeneration slow (RDS) gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ADRP). Using polymerase chain reaction-single strand conformation polymorphism analysis, a novel mutation at codon 214 was found in which the highly conserved cysteine was replaced with a serine in one family. The mutation at codon 214 was found in all three affected siblings of this family, but none of the 40 normal control individuals had this mutation. These results strongly suggest that the mutation is pathogenic for RP in this family. The clinical phenotype for this family is a late-onset form of ADRP.
authors.affiliation: Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Saga
authors.forename: Y
authors.initials: Y
authors.lastname: Mashima
authors.forename: K
authors.initials: K
authors.lastname: Akeo
authors.forename: Y
authors.initials: Y
authors.lastname: Oguchi
authors.forename: J
authors.initials: J
authors.lastname: Kudoh
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
mesh_terms: D017668:Age of Onset; D001483:Base Sequence; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D004277:DNA, Single-Stranded / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D005136:Eye Proteins / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D008562:Membrane Glycoproteins; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D009479:Neuropeptides / Q000235:genetics*; D009690:Nucleic Acid Conformation; D064531:Peripherins; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012694:Serine / Q000235:genetics
chemical_list: D004277:DNA, Single-Stranded; D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D009479:Neuropeptides; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D012694:Serine; D003545:Cysteine