A novel pathogenic splicing mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa verified by minigene splicing assay

AIM: To report a novel splicing mutation in the RPGR gene (encoding retinitis pigmentosa GTPase regulator) three-generation Chinese family with X-linked (XLRP). METHODS: Comprehensive ophthalmic examinations including best corrected visual acuity, fundus photography, vision field, and pattern-visual evoked potential were performed to identify disease phenotype of six-year-old boy from (proband). Genomic DNA was extracted peripheral blood five available members pedigree. Whole-exome sequencing (WES), Sanger sequencing, pSPL3-based exon trapping used investigate aberrant RPGR. Human Splice Finder v3.1 NNSPLICE v0.9 for silico prediction splice site variants. RESULTS: The proband diagnosed as having (RP). He had severe symptoms early onset. A mutation, c.619+1G>C identified by WES four sequencing. Minigene assays verified that would result formation damaging alternative transcript which last 91 bp 6 skipped, leading subsequent deletion 623 correct amino acids (c.529_619del p.Val177Glnfs*16). CONCLUSION: We donor causing Our findings add catalog pathological mutations further emphasize functional importance RP pathogenesis its complex clinical phenotypes.