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Analysis of RPGR in a South African family with X‐linked retinitis pigmentosa: research and diagnostic implications
Author(s) -
Rebello G,
Vorster A,
Greenberg J,
Coutts N,
Roberts L,
Ehrenreich L,
Gama D,
Ramesar R
Publication year - 2003
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2003.00090.x
Subject(s) - retinitis pigmentosa , mutation , genetics , exon , gene , medicine , biology
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.