Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
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DOI：
10.1371/journal.pone.0065546
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Zhang Q
中科院分区：
文献类型：
--
作者：
Huang L;Zhang Q;Li S;Guan L;Xiao X;Zhang J;Jia X;Sun W;Zhu Z;Gao Y;Yin Y;Wang P;Guo X;Wang J;Zhang Q
这项研究的目的是在47个无血缘关系的视锥-视杆细胞营养不良(CORD)中国家系中确定25个已知致病基因的突变。来自无血缘关系的脐带家系的47名先证者被招募。从白细胞中提取基因组DNA进行全外显子组测序。选择了这25个基因中的变异体，然后通过桑格测序进行了验证。在47个家系中的10个(21.28%)中发现了14个潜在的致病突变，其中包括9个新突变和5个已知突变。分别在3个、4个或3个家系中检测到纯合子、复合杂合子和半合子突变。10个家系的14个突变分别分布在CNGB3(3个家系)、PDE6C(2个家系)、ABCA4(1个家系)、RPGRIP1(1个家系)、RPGR(2个家系)和CACNA1F(1个家系)。本研究简要介绍了中国人脐带病队列中25个基因的突变谱。新突变的鉴定丰富了我们对这些基因的变异及其相关表型的理解。据我们所知，这是首次对所有25个脐带相关基因进行系统的外显子组测序分析。
The goal of this study was to identify mutations in 25 known causative genes in 47 unrelated Chinese families with cone-rod dystrophy (CORD). Forty-seven probands from unrelated families with CORD were recruited. Genomic DNA prepared from leukocytes was analyzed by whole exome sequencing. Variants in the 25 genes were selected and then validated by Sanger sequencing. Fourteen potential pathogenic mutations, including nine novel and five known, were identified in 10 of the 47 families (21.28%). Homozygous, compound heterozygous, and hemizygous mutations were detected in three, four, or three families, respectively. The 14 mutations in the 10 families were distributed among CNGB3 (three families), PDE6C (two families), ABCA4 (one family), RPGRIP1 (one family), RPGR (two families), and CACNA1F (one family). This study provides a brief view on mutation spectrum of the 25 genes in a Chinese cohort with CORD. Identification of novel mutations enriched our understanding of variations in these genes and their associated phenotypes. To our knowledge, this is the first systemic exome-sequencing analysis of all of the 25 CORD-associated genes.
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影响因子：
14.8
作者：
Kumar, Prateek;Henikoff, Steven;Ng, Pauline C.
通讯作者：
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DOI：
10.1016/j.bbrc.2012.08.110
发表时间：
2012-10-05
影响因子：
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作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
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