Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients.
Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients.
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DOI：
10.1002/mgg3.250
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发表时间：
2017-03
影响因子：
2
通讯作者：
Van den Veyver IB
中科院分区：
文献类型：
--
作者：
Wong BK;Sutton VR;Lewis RA;Van den Veyver IB
艾卡迪综合征是一种严重的神经发育障碍，其特征是婴儿痉挛、典型的脉络膜视网膜陷窝、痂状体发育不全和其他神经元移行缺陷。最近有报道称，TEAD1和OCEL1基因的从头变异可能会导致艾卡迪综合征在一小群有这种临床诊断的女性中单独出现。这些数据被解释为Aicardi综合征的临床诊断可能在遗传上是不同的。为了进一步研究这一点，我们使用来自38名患有艾卡迪综合征的临床特征良好的女孩的DNA对TEAD1和OCEL1编码区进行了测序。我们没有在任何分析样本中检测到之前报告的或任何其他有害变异。这表明，已发表的变种要么是艾卡迪综合征的极其罕见的原因，要么是偶然发现的。
Aicardi syndrome is a severe neurodevelopmental disorder characterized by infantile spasms, typical chorioretinal lacunae, agenesis of the corpus callosum, and other neuronal migration defects. It has been reported recently that de novo variants in TEAD1 and OCEL1 each may cause Aicardi syndrome in a single individual of a small cohort of females with this clinical diagnosis. These data were interpreted to suggest that the clinical diagnosis of Aicardi syndrome may be genetically heterogeneous. To investigate this further, we sequenced TEAD1 and OCEL1 coding regions using DNA from 38 clinically well‐characterized girls with Aicardi syndrome. We did not detect the previously reported or any other deleterious variants in any of the analyzed samples. This suggests that the published variants represent either an extremely rare cause of Aicardi syndrome or an incidental finding.