A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa.
OBJECTIVE
To report a novel mutation in RPGR gene in a Chinese family with X-linked dominant retinitis pigmentosa(XLRP).


METHODS
Genetic 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.


RESULTS
Significant 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.


CONCLUSIONS
The above finding expands the spectrum of RPGR mutations causing XLRP in Chinese family and is useful for further genetic consultation and genetic diagnosis.
Li
Yang
Y
Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, 100730 PR China.
Dong
Bing
B
Hu
Ai-lian
AL
Cui
Tong-tong
TT
Zheng
Yuan-yuan
YY
D002681:China; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*
D005136:Eye Proteins; C099929:RPGR protein, human