Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.
Several forms of autosomal dominant retinitis pigmentosa (adRP) are caused by mutations in genes encoding proteins that are ubiquitously expressed and involved in the pre-mRNA spliceosome such as PRPF31. This paper provides an overview of the molecular genetics, pathophysiology, and mechanism for incomplete penetrance and retina-specific disease in pedigrees of families who harbor mutations in PRPF31 (RP11). The molecular and clinical features of a family with a novel 3-base insertion, c.914_915insTGT (p.Val305_Asp306insVal) in exon 9 of PRPF31 are described to illustrate the salient clinical features of mutations in this gene.
Cole Eye Institute, Cleveland Clinic , Cleveland, OH , USA , and.
Virginia M
VM
Utz
Craig D
CD
Beight
Meghan J
MJ
Marino
Stephanie A
SA
Hagstrom
Elias I
EI
Traboulsi
D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012322:RNA Precursors / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017381:Spliceosomes / Q000235:genetics*; D014792:Visual Acuity / Q000502:physiology
D005136:Eye Proteins; C454222:PRPF31 protein, human; D012322:RNA Precursors