Purpose: To localize and identify the gene and mutations causing an X-linked Chinese family with retinitis pigmentosa.
Methods: An XLRP Chinese family was ascertained and patients underwent ophthalmological examinations. Blood samples were collected and genomic DNA was extracted. Linkage scan was performed on genomic DNA from affected and unaffected family members using microsatellite markers flanking 17 known autosomal dominant loci and markers covering the entire X chromosome. Mutation screening of RPGR gene was carried out by direct DNA sequence analysis.
Results: A genome wide scan yielded a lod score of 2.7 at θ=0 with DXS1068 and 3.29 at θ=0 with DXS993. This region harbors the RPGR gene. Direct DNA sequence analysis reveals one base pair deletion, gORF15+556delA, in all affected individuals. The deletion results in the frameshift change of RPGR gene and produces a truncated protein.
Conclusions: We identified a novel mutation, gORF15+556delA (p.Lys184fs), in a Han Chinese family with retinitis pigmentosa. This mutation expands the mutation spectrum of RPGR and helps to study molecular pathogenesis of RP further.
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