title: Novel frameshift mutations in the RP2 gene and polymorphic variants.
abstract: Mutations in the RP2 gene located on Xp11.23 are associated with X-linked retinitis pigmentosa (XLRP), a severe form of progressive retinal degeneration which leads to complete loss of vision in affected males. To date, 14 different mutations in the RP2 gene have been reported to cause XLRP, the majority of which lead to a coding frameshift within the gene and predicted truncation of the protein product. We here report two novel frameshift mutations in RP2 identified in XLRP families by PCR-SSCP and direct sequencing, namely 723delT and 796-799del. Four single nucleotide polymorphisms (SNPs) within the coding region of RP2 are also described (105A>T, 597T>C, 844C>T, 1012G>T), the first polymorphisms to be reported within this gene of unknown function, two of which alter the amino acid sequence. The current study extends the XLRP mutation profile of RP2 and highlights non-pathogenic coding sequence variations which may facilitate both functional studies of the gene and analysis of intragenic allelic contribution to the phenotype.
authors.affiliation: Departments of Molecular Genetics and Clinical Ophthalmology, Institute of Ophthalmology, University College London, London, UK.
authors.forename: D L
authors.initials: DL
authors.lastname: Thiselton
authors.forename: I
authors.initials: I
authors.lastname: Zito
authors.forename: C
authors.initials: C
authors.lastname: Plant
authors.forename: M
authors.initials: M
authors.lastname: Jay
authors.forename: S V
authors.initials: SV
authors.lastname: Hodgson
authors.forename: A C
authors.initials: AC
authors.lastname: Bird
authors.forename: S S
authors.initials: SS
authors.lastname: Bhattacharya
authors.forename: A J
authors.initials: AJ
authors.lastname: Hardcastle
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D005136:Eye Proteins; D016368:Frameshift Mutation / Q000235:genetics*; D019204:GTP-Binding Proteins; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008565:Membrane Proteins; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*
chemical_list: D005136:Eye Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D011506:Proteins; C072178:RP2 protein, human; D019204:GTP-Binding Proteins