Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.
Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.
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中国五个 X 连锁色素性视网膜炎家系 RP2 和 RPGR 突变分析
DOI：
10.1038/srep44465
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发表时间：
2017-03-15
影响因子：
4.6
通讯作者：
Li N
中科院分区：
文献类型：
--
作者：
Jiang J;Wu X;Shen D;Dong L;Jiao X;Hejtmancik JF;Li N
RP2和RPGR基因的突变是导致X连锁视网膜色素变性（XLRP）的原因。本研究分析了5个中国汉族XLRP家系的RP2和RPGR基因突变。在一个XLRP家系中发现一个包含RP2基因第4、5外显子的约17Kb的大片段缺失。此外，在其他4个家系中还发现了4个移码突变，包括3个新的突变c.1059 + 1 G > T、c.2002dupC和c.2236_2237del CT，以及1个已报道的突变c.2899delG。本研究进一步扩展了RP2和RPGR的突变谱，为进一步研究XLRP的分子发病机制提供了理论依据。
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.