A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To report a novel mutation in RPGR gene in a Chinese family with X-linked dominant retinitis pigmentosa(XLRP).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>The above finding expands the spectrum of RPGR mutations causing XLRP in Chinese family and is useful for further genetic consultation and genetic diagnosis.</p>