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. (22nd January 2013)

• Record Type: Journal Article
• Authors: Utz, Virginia M.; Beight, Craig D.; Marino, Meghan J.; Hagstrom, Stephanie A.; Traboulsi, Elias I.
• Is Part Of: Ophthalmic genetics. Volume 34:Number 4(2013:Dec.)
• Page Start: 183
• Page End: 188
• Publication Date: 2013-01-22
• Subjects: Autosomal dominant -- incomplete penetrance -- PRPF31 -- retinitis pigmentosa -- spliceosome; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2012.762932
• Languages: English
• ISSNs: 1381-6810

Abstract

Abstract: 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.