A preumed miene mutation of RPGR caue abnormal RNA plicing with exon kipping

Purpoe A patient with retiniti pigmentoa demontrated a novel RPGR mutation (213G>A, lat bae of exon 2) predicted to caue a miene change (G52R) in the final protein. Thi tudy wa performed to determine whether thi mutation altered the effectivene of the adjacent plice ite. Deign Obervational cae report. Method Total RNA wa extracted from leukocyte of the proband and hi carrier mother. Revere trancription–polymerae chain reaction (RT-PCR) wa performed by uing the primer flanking exon 2 of RPGR trancript, followed by gel purification and direct equencing. Reult equencing revealed kipping of exon 2 in the mutated trancript, leading to in-frame deletion of 42 amino acid affecting the critical RCC1-like domain. Concluion The lat bae of exon i conerved a “G” in 80% of plicing conenu equence, yet when changed, can completely dirupt contitutive plicing a in thi patient. Our data confirm that the evaluation of the effect of ome DNA equence alteration at the RNA level might have important implication for appropriate genotype-phenotype correlation.