Study on causes and mechanisms of trigonocephaly syndromes using Next-generation sequencers.

三角头症有很多症状。然而，几乎所有的综合征尚未确定其负责基因及其机制。本研究旨在鉴别三角头畸形患者的异常情况，建立三角头畸形相关基因的基因扫描系统。我们发现了9q34的部分缺失。使用下一代测序仪对Bohring-Opitz综合征患者的ASXL1基因突变进行全外显子组分析，对6例患者的CD96或ASXL1基因突变进行直接测序分析。我们还利用qPCR-HRM方法建立了CD96和ASXL1基因扫描系统。对于三角头畸形的机制，我们发现CD96与细胞外基质蛋白层粘连蛋白相互作用。

There are many syndromes with trigonocephaly. However, almost all the syndromes have not been identified their responsible genes and their mechanisms. The aim of this study was to identify abnormalities in the patients with trigonocephaly and to establish the gene-scanning system for responsible genes for trigonocephaly.We identified a partial deletion of 9q34. 11 in a patient by array-CGH, a mutation in the ASXL1 gene in a patient with Bohring-Opitz syndrome by whole exome analysis using Next-generation sequencer, and mutations in CD96 or ASXL1 in six patients by direct sequencing analysis. We also established gene-scanning systems for CD96 and ASXL1 by qPCR-HRM method.For the mechanisms of trigonocephaly, we found that CD96 interacts with an extra-cellular matrix protein, laminin.