title: A photoreceptor gene mutation in an indigenous black African family with retinitis pigmentosa identified using a rapid screening approach for common rhodopsin mutations.
abstract: Hereditary retinal degenerations may be subdivided into those affecting predominantly the central (macular) or peripheral regions of the retina. Retinitis pigmentosa (RP) affects the photoreceptors; death of the rod cells is followed by a progressive loss of cone cells, resulting in relatively early loss of peripheral vision and progressive constriction of the visual fields. A mutation in the gene encoding the photoreceptor protein, rhodopsin, was the first molecular defect identified as a potential cause of inherited retinal degeneration (RD). In the study reported here, simple tests for rhodopsin involvement in 194 southern African patients with a history of retinal degeneration, including 14 black African patients, were performed. Two RP patients were identified with disease-causing mutations in the rhodopsin gene: one from a black African family in which a codon 347 mutation resulted in a Pro-Leu substitution, and one in a family of Caucasian origin where a codon 58 alteration resulted in a Thr-Arg substitution. This is the first report of a disease-causing rhodopsin mutation in an indigenous black African family with retinitis pigmentosa.
authors.affiliation: Department of Human Genetics, University of Cape Town.
authors.forename: J
authors.initials: J
authors.lastname: Greenberg
authors.forename: T
authors.initials: T
authors.lastname: Franz
authors.forename: R
authors.initials: R
authors.lastname: Goliath
authors.forename: R
authors.initials: R
authors.lastname: Ramesar
mesh_terms: D044383:Black People / Q000235:genetics*; D003062:Codon; D006801:Humans; D009154:Mutation; D010786:Photoreceptor Cells / Q000378:metabolism*; D016133:Polymerase Chain Reaction / Q000379:methods; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics* / Q000502:physiology; D013019:South Africa
chemical_list: D003062:Codon; D012243:Rhodopsin