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.
Conclusion: The above finding expands the spectrum of RPGR mutations causing XLRP in Chinese family and is useful for further genetic consultation and genetic diagnosis.