title: Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications.
abstract: Analysis of exon ORF15 of the RPGR gene has revealed a novel mutation in a South African family with X-linked retinitis pigmentosa (XLRP), which has implications for the rest of the family in terms of pre-symptomatic testing. The ability to test for this mutation will be beneficial for the accurate determination of carrier status in female relatives who may have been unaware of their risk before this study was performed. This work also highlights the need to be aware of the ramifications of mutation testing in what may appear to be small families. This is the first report of an RPGR ORF15 mutation in a South African family of mixed ancestry.
authors.affiliation: Division of Human Genetics, Department of Clinical Laboratory Sciences, Faculty of Health Sciences, University of Cape Town, Observatory, Cape Town, South Africa. gr@cormack.uct.ac.za
authors.forename: G
authors.initials: G
authors.lastname: Rebello
authors.forename: A
authors.initials: A
authors.lastname: Vorster
authors.forename: J
authors.initials: J
authors.lastname: Greenberg
authors.forename: N
authors.initials: N
authors.lastname: Coutts
authors.forename: L
authors.initials: L
authors.lastname: Roberts
authors.forename: L
authors.initials: L
authors.lastname: Ehrenreich
authors.forename: D
authors.initials: D
authors.lastname: Gama
authors.forename: R
authors.initials: R
authors.lastname: Ramesar
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D005136:Eye Proteins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013019:South Africa
chemical_list: D017931:DNA Primers; D005136:Eye Proteins; C099929:RPGR protein, human