Phenotype of an X-Linked Retinitis Pigmentosa Family with a Novel Splice Defect in the RPGR Gene

摘要: PURPOSE: To assess the clinical phenotype in a Swedish family with X- linked retinitis pigmentosa (XLRP) resulting from novel splice defect RPGR gene. METHODS: mutation analysis was performed one XLRP, and several individuals were examined clinically. RESULTS: The causative demonstrated to be single base-pair change at donor site intron 7 that resulted skipping of complete exon mature transcript. aberrant mRNA is predicted produce an protein in-frame deletion 53 amino acids, corresponding RCC1-homology repeat. Clinical studies included ophthalmological examination full-field electroretinography showed this comparatively less severe form RP. CONCLUSIONS: Correlation genotype findings hemizygotes carrier heterozygotes important step toward predictive diagnosis should assist development gene-based therapies future. (Less)