The role of the peripherin/RDS gene in retinal dystrophies.
Peripherin/RDS is a transmembrane glycoprotein expressed in vertebrate photoreceptors. It is located at the rim of the disc membranes of the photoreceptor outer segments, where it is thought to play an important role in folding and stacking of the discs. Initially, the identification of a mutation in the rds mouse model defined the role of this gene in hereditary retinal dystrophies. To date over 60 different mutations have been reported in human retinal diseases, with most being restricted to single families. A characteristic of mutations in the peripherin/RDS gene is the broad phenotypic spectrum in patients, and the variability in clinical expression, even within families. Thus, genotype-phenotype correlations are difficult and only reliable for a minority of mutations.
Kohl
S
S
Molekulargenetisches Labor, Universitäts-Augenklinik Tübingen, Deutschland.
Giddings
I
I
Besch
D
D
Apfelstedt-Sylla
E
E
Zrenner
E
E
Wissinger
B
B
D000818:Animals; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics* / Q000378:metabolism; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D008817:Mice, Mutant Strains; D008822:Mice, Transgenic; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D064531:Peripherins; D010641:Phenotype; D017354:Point Mutation; D012162:Retinal Degeneration / Q000235:genetics* / Q000378:metabolism
D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; C578996:Prph2 protein, mouse