title: Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3).
abstract: We have identified a novel RPGR gene mutation in a large Dutch family with X-linked retinitis pigmentosa (RP3). In affected members, a G-->T transversion was found at position +1 of the 5' splice site of intron 5 of the RPGR (retinitis pigmentosa GTPase regulator) gene. Analysis of this mutation at the RNA level showed cryptic splicing upstream of the mutation in exon 5 leading to a frameshift and downstream termination codon. Identification of the causative mutation in this family has facilitated the detection of females at risk of having an affected son.
authors: MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK. kld23@mole.bio.cam.ac.uk
authors: K L
authors: KL
authors: Dry
authors: F D
authors: FD
authors: Manson
authors: A
authors: A
authors: Lennon
authors: A A
authors: AA
authors: Bergen
authors: D B
authors: DB
authors: Van Dorp
authors: A F
authors: AF
authors: Wright
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D005136:Eye Proteins; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012326:RNA Splicing / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D005136:Eye Proteins; C099929:RPGR protein, human