Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa

Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene

“…In our patient sample, we have characterized an additional two mutations in exon 3, including a missense (G305D) and a nonsense mutation (W316Stop). The W316Stop as well as the previously identified 920delT mutation (Grüning et al, 1994) should result in a protein with a similar truncation of the cytoplasmic C-terminus. Nevertheless, these comparable alterations correlate with clinical phenotypes as distinct as multifocal-type AVMD and adRP.…”

“…Because of the frequent polymorphisms in exon 3 of the peripherin/RDS gene, only two mutations have thus far been identified in this exon, including a 2-bp deletion in codon 299/300 associated with butterflyshaped pigment dystrophy (Nichols et al, 1993b) and a 1-bp deletion in codon 307 (920delT) associated with adRP (Grüning et al, 1994). Both alterations represent a frameshift mutation modifying the most C-terminal end of the mature protein.…”

Molecular Genetic Study of Autosomal Dominant Retinitis pigmentosa in Lithuanian Patients

“…Screening for mutations within 5 exons of the RHO gene and 3 exons of the RDS gene was performed using DNA heteroduplex analysis [8] of polymerase chain reaction (PCR) amplified DNA [9]. Oligonucleotide primer pairs were chosen to amplify DNA of all 5 exons of the RHO gene [10] and 3 exons of the RDS gene [11]. Approximately 250 ng of the target sequence was amplified with Taq DNA polymerase according to the manufacturer's recommendations in 50 Ìl reaction mixture.…”

Gene Therapy for PRPH2-Associated Ocular Disease: Challenges and Prospects

“…They typically exhibit standard clinical signs of retinitis pigmentosa, including decline of the rod electroretinogram (ERG) response, appearance of bone spicules in the fundus and attenuation of retinal arterioles (Boon et al 2008). Although the age of onset can be as early as the first to third decade of life in a few cases (Farrar et al 1991;Gruning et al 1994), disease presentation typically occurs between the third and fifth decades (Saga et al 1993;Gruning et al 1994).…”