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.

Cite this paper

@article{Rebello2003AnalysisOR, title={Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications.}, author={George Rebello and Anna Alvera Vorster and Jacquie Greenberg and Nicola Coutts and Lisa J. Roberts and Liezle Ehrenreich and Dan Gama and Rajkumar Sewcharan Ramesar}, journal={Clinical genetics}, year={2003}, volume={64 2}, pages={137-41} }