Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders
Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders
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DOI：
10.1111/cge.12492
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发表时间：
2015-09-01
影响因子：
3.5
通讯作者：
Kosaki, K.
中科院分区：
文献类型：
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作者：
Okamoto, N.;Miya, F.;Kosaki, K.
我们开发了一种基于下一代测序(NGS)的神经发育疾病突变筛查策略。利用这个系统，我们对40名患者的284个基因进行了筛查。发现了几种新的突变。患者1在ACTB中有一种新的突变。她的畸形特征对于Baraitser-温特综合征来说是轻微的。例2有DYRK1A型截短突变。她缺乏小头畸形，这在以前被认为是DYRK1A型功能丧失的持续特征。例3发现一种新的GABRD基因突变。她表现出雷特综合征的特征。例4为伴有PTPN11突变的Noonan综合征。他表现为完全的骨痂发育不全。我们已经讨论了这些新的发现。
We developed a next-generation sequencing (NGS) based mutation screening strategy for neurodevelopmental diseases. Using this system, we screened 284 genes in 40 patients. Several novel mutations were discovered. Patient 1 had a novel mutation in ACTB. Her dysmorphic feature was mild for Baraitser-Winter syndrome. Patient 2 had a truncating mutation of DYRK1A. She lacked microcephaly, which was previously assumed to be a constant feature of DYRK1A loss of function. Patient 3 had a novel mutation in GABRD gene. She showed Rett syndrome like features. Patient 4 was diagnosed with Noonan syndrome with PTPN11 mutation. He showed complete agenesis of corpus callosum. We have discussed these novel findings.