MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, The Capital University of Medical Science, Beijing, China.
Tianjin Medical University, Tianjin, China.
Sci Rep. 2017 Mar 15;7:44465. doi: 10.1038/srep44465.
Mutations in RP2 and RPGR genes are responsible for the X-linked retinitis pigmentosa (XLRP). In this study, we analyzed the RP2 and RPGR gene mutations in five Han Chinese families with XLRP. An approximately 17Kb large deletion including the exon 4 and exon 5 of RP2 gene was found in an XLRP family. In addition, four frameshift mutations including three novel mutations of c.1059 + 1 G > T, c.2002dupC and c.2236_2237del CT, as well as a previously reported mutation of c.2899delG were detected in the RPGR gene in the other four families. Our study further expands the mutation spectrum of RP2 and RPGR, and will be helpful for further study molecular pathogenesis of XLRP.
RP2 和 RPGR 基因突变可导致 X 连锁视网膜色素变性（XLRP）。本研究分析了 5 个汉族 XLRP 家系中 RP2 和 RPGR 基因突变。在一个 XLRP 家系中发现一个包含 RP2 基因外显子 4 和外显子 5 的约 17Kb 大片段缺失。此外，在其他四个家系的 RPGR 基因中还检测到四个框移突变，包括三个新的突变 c.1059+1G>T、c.2002dupC 和 c.2236_2237del CT，以及一个先前报道的 c.2899delG 突变。本研究进一步扩展了 RP2 和 RPGR 的突变谱，有助于进一步研究 XLRP 的分子发病机制。
