A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa.
- Author:
Yang LI
1
;
Bing DONG
;
Ai-lian HU
;
Tong-tong CUI
;
Yuan-yuan ZHENG
Author Information
- Publication Type:Journal Article
- MeSH: China; DNA Mutational Analysis; Eye Proteins; genetics; Family Health; Female; Genetic Diseases, X-Linked; genetics; Humans; Male; Mutation; Pedigree; Polymorphism, Single-Stranded Conformational; Retinitis Pigmentosa; genetics
- From: Chinese Journal of Medical Genetics 2005;22(4):396-398
- CountryChina
- Language:English
-
Abstract:
OBJECTIVETo report a novel mutation in RPGR gene in a Chinese family with X-linked dominant retinitis pigmentosa(XLRP).
METHODSGenetic linkage analysis was performed on the known genetic loci for XLRP with a panel of polymorphic markers, then the mutations were identified by single-strand conformation polymorphism(SSCP) and direct sequencing.
RESULTSSignificant two-point Lod score was generated using marker DXS8025 (Zmax=2.4, theta =0). The disease gene locus was confined to Xp21.1 with further analysis of genetic linkage and haplotype. Mutations screening of RPGR gene in this family revealed a GA deletion at ORF15+483-484 which caused the open reading frameshift. This novel mutation co-segregated with the affected members of the pedigree, but it was not present in the unaffected relatives.
CONCLUSIONThe above finding expands the spectrum of RPGR mutations causing XLRP in Chinese family and is useful for further genetic consultation and genetic diagnosis.
