Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop).
OBJECTIVE
We identified genetic mutations and characterized their associated phenotypes in patients with retinitis pigmentosa.


METHODS
Patients with retinitis pigmentosa were prospectively examined and screened for genetic mutations.


RESULTS
A 46-year-old man with retinitis pigmentosa was found to have a heterozygous mutation in the peripherin/RDS gene (arginine-46-stop). He had late onset of symptoms and demarcated peripheral retinal atrophy. All five first-degree relatives including his parents had no detectable mutations or retinitis pigmentosa. Genotypic data were consistent with reported family structure.


CONCLUSIONS
This study shows that new dominant mutations are a rare cause of isolated, or simplex, cases of retinitis pigmentosa. Identification of these mutations is helpful for genetic counseling.
Lam
B L
BL
Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock.
Vandenburgh
K
K
Sheffield
V C
VC
Stone
E M
EM
D000328:Adult; D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D004247:DNA / Q000032:analysis; D004596:Electroretinography; D005654:Fundus Oculi; D005799:Genes, Dominant; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins; D009479:Neuropeptides / Q000235:genetics; D010375:Pedigree; D064531:Peripherins; D016133:Polymerase Chain Reaction; D011446:Prospective Studies; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D012243:Rhodopsin / Q000235:genetics
D003062:Codon; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D009479:Neuropeptides; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D004247:DNA; D012243:Rhodopsin; D001120:Arginine