Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy
Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy
复制标题
在一个患有视杆细胞营养不良的中国家族中发现了新的 GUCA1A 突变
DOI：
10.1016/j.neulet.2013.02.013
复制
发表时间：
2013-04-29
影响因子：
2.5
通讯作者：
Zhang, Qingjiong
中科院分区：
文献类型：
--
作者：
Huang, Li;Li, Shiqiang;Zhang, Qingjiong
先前已在视网膜变性患者中鉴定并报道了鸟苷酸环化酶激活剂1A（GUCA 1A）的10个突变，包括来自12个锥-杆营养不良（CORD）家族的患者和1例视网膜色素变性（RP）孤立患者。本研究应用桑格测序技术对130个中国家系的130例CORD先证者的GUCA 1A基因外显子及其邻近区域进行了分析。在一个大家族的先证者中检测到一种新的杂合性c.464A>C（p.Glu155Ala）突变。该突变在该家族中检查的所有9名患者中存在，但在6名未受影响的家族成员和192名正常对照中不存在。该家系9例患者中8例表达典型CORD，1例表达非典型CORD。这项研究的结果表明，GUCA 1A突变只有助于一小部分的CORD在中国血统的人。(C)2013爱思唯尔爱尔兰有限公司版权所有。
Ten mutations in the guanylate cyclase activator 1A (GUCA1A) have been previously identified and reported in patients with retinal degeneration, including patients from 12 families with cone-rod dystrophy (CORD) and in an isolated patient with retinitis pigmentosa (RP). In this study, the coding exons and adjacent regions of GUCA1A were evaluated in 130 probands with CORD from 130 unrelated Chinese families using Sanger sequencing. A novel heterozygous c.464A>C (p.Glu155Ala) mutation was detected in a proband from a large family. The mutation presented in all nine patients examined in that family, but it was absent in six unaffected family members and 192 normal controls. All the nine patients in that family expressed typical CORD in eight cases and atypical CORD in one case. The results of this study suggested that the GUCA1A mutation only contributes to a small portion of CORD in people of Chinese descent. (C) 2013 Elsevier Ireland Ltd. All rights reserved.