Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.
Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.
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DOI：
10.1371/journal.pone.0100455
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发表时间：
2014
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：
Sun W;Xiao X;Li S;Guo X;Zhang Q
本研究的目的是调查18个中国先天性白内障家系的34个已知基因的突变谱和频率。基因组 DNA 和临床数据收集自 18 个先天性白内障家庭。通过全外显子组测序筛选 34 个白内障相关基因的变异，然后通过桑格测序进行验证。通过外显子组测序检测到 34 个基因中的 7 个基因中的 11 个候选变异，然后通过桑格测序进行确认，其中包括两个预测为良性的变异和其他致病突变。这 9 种突变存在于 18 个先天性白内障家庭中的 9 个（50%）。在 X 连锁 NHS 基因突变的四个家族中，除了白内障外，没有记录到其他异常，其中暗示了假显性遗传形式，因为女性携带者也患有不同形式的白内障。这项研究扩大了先天性白内障基因的突变谱和频率。 NHS 突变是具有假常染色体显性遗传的非综合征性先天性白内障的常见原因。结合我们之前的研究，在我们的病例系列中，67.6%的先天性白内障家庭可以确定遗传基础，其中编码晶状体蛋白、编码连接蛋白和NHS的基因突变分别占29.4%、14.7%和11.8%的家庭。我们的研究结果表明，NHS 突变是先天性白内障（综合征性和非综合征性）的常见原因。
The aim of this study was to investigate the mutation spectrum and frequency of 34 known genes in 18 Chinese families with congenital cataracts. Genomic DNA and clinical data was collected from 18 families with congenital cataracts. Variations in 34 cataract-associated genes were screened by whole exome sequencing and then validated by Sanger sequencing. Eleven candidate variants in seven of the 34 genes were detected by exome sequencing and then confirmed by Sanger sequencing, including two variants predicted to be benign and the other pathogenic mutations. The nine mutations were present in 9 of the 18 (50%) families with congenital cataracts. Of the four families with mutations in the X-linked NHS gene, no other abnormalities were recorded except for cataract, in which a pseudo-dominant inheritance form was suggested, as female carriers also had different forms of cataracts. This study expands the mutation spectrum and frequency of genes responsible for congenital cataract. Mutation in NHS is a common cause of nonsyndromic congenital cataract with pseudo-autosomal dominant inheritance. Combined with our previous studies, a genetic basis could be identified in 67.6% of families with congenital cataracts in our case series, in which mutations in genes encoding crystallins, genes encoding connexins, and NHS are responsible for 29.4%, 14.7%, and 11.8% of families, respectively. Our results suggest that mutations in NHS are the common cause of congenital cataract, both syndromic and nonsyndromic.
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