title: A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.
abstract: OBJECTIVE
  To report a complex mutation in the peripherin/RDS gene found in a family in whom retinal pattern dystrophy is segregating as an autosomal dominant trait.
  
  
  METHODS
  Clinical data were collected from family members of a large Swiss family affected by autosomal dominant retinal pattern dystrophy. Single strand conformation polymorphism (SSCP) analysis of the candidate gene peripherin/RDS and subsequent sequencing of the first exon were performed.
  
  
  RESULTS
  Pattern dystrophy of the retina was suspected in 18 family members aged 30 years or older. Assuming a homogeneous phenotype, the candidate locus peripherin/RDS was investigated. SSCP analysis of the first exon of the peripherin/RDS gene showed an aberrant pattern in 18 affected individuals. Direct sequencing of polymerase chain reaction products detected a complex mutation, del265-268GCCA ins AGGGCC, leading to a stop codon at amino acid position 99.
  
  
  CONCLUSIONS
  To our knowledge, we report the first complex mutation in the peripherin/RDS gene as the cause of a mild macular phenotype, supporting the importance of molecular diagnosis in genetic counseling.
authors.affiliation: Klinik Pallas, Department of Ophthalmology, Olten, Switzerland. bpajic@datacomm.ch
authors.forename: Bojan
authors.initials: B
authors.lastname: Pajic
authors.forename: Maike
authors.initials: M
authors.lastname: Weigell-Weber
authors.forename: Isaak
authors.initials: I
authors.lastname: Schipper
authors.forename: Christoph
authors.initials: C
authors.lastname: Kryenbühl
authors.forename: Ernst R
authors.initials: ER
authors.lastname: Büchi
authors.forename: Roland
authors.initials: R
authors.lastname: Spiegel
authors.forename: Martin
authors.initials: M
authors.lastname: Hergersberg
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D064531:Peripherins; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012162:Retinal Degeneration / Q000235:genetics*
chemical_list: D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins