CRX variants in cone-rod dystrophy and mutation overview
CRX variants in cone-rod dystrophy and mutation overview
复制标题
锥杆营养不良中的 CRX 变异和突变概述
DOI：
10.1016/j.bbrc.2012.08.110
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发表时间：
2012-10-05
影响因子：
3.1
通讯作者：
Zhang, Qingjiong
中科院分区：
文献类型：
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作者：
Huang, Li;Xiao, Xueshan;Zhang, Qingjiong
视锥-视杆同源异型盒基因（CRX）的突变与视锥-视杆营养不良（CORD）、莱伯先天性黑蒙（LCA）以及极少数情况下的视网膜色素变性（RP）相关。本研究在130个CORD家系中检测到3个变异，其中包括两个新突变，c.239A>G（p.Glu80Gly）和c.362C>T（p.Ala121Val）。到目前为止，已报道CRX基因的49个突变，影响约2.35%的LCA，4.76%的CORD和0.80%的RP。这些突变可分为错义突变（38.78%）、无义突变（4.08%）、缺失突变（36.73%）、插入突变（16.33%）和插入缺失突变（4.08%）。它们分布在三个编码外显子上，没有突变热点。到目前为止，尚未建立明确的基因型-表型相关性。(C)2012 Elsevier Inc. All rights reserved.
Mutations in the cone-rod homeobox gene (CRX) are associated with cone-rod dystrophy (CORD), Leber congenital amaurosis (LCA), and, in rare cases, retinitis pigmentosa (RP). In this study, three variations were detected in 3 of 130 families with CORD, including two novel mutations, c.239A>G (p.Glu80Gly) and c.362C>T (p.Ala121Val). So far, 49 mutations in CRX were reported, affecting about 2.35% of LCA, 4.76% of CORD, and 0.80% of RP. These mutations can be classified as missense (38.78%), nonsense (4.08%), deletion (36.73%), insertion (16.33%), and indel (4.08%). They distributed in the three coding exons without mutation hot spots. No clear genotype-phenotype correlation could be established so far. (C) 2012 Elsevier Inc. All rights reserved.