Abstract：
There are a few comprehensive genetic studies on autism spectrum disorders (ASD) in India. Children of multiple births are valuable for genomics studies of complex disorders such as ASD. We report whole-exome sequencing (WES) in a triplet family in which only one among the triplet has ASD. The objective of this study was to identify potential candidate genes for ASD. Exome DNA was enriched using a twist human customized core exome kit, and paired-end sequencing was performed. Proband-specific de novo variants included 150 single nucleotide polymorphisms (SNPs) and 74 indels. Thirteen SNPs were in exonic regions, 7 of them being missense variations. Seventeen variants were previously reported in ASD. Genes harboring variants have functions in the development and maintenance of the central nervous system and are enriched in biological processes involving cell adhesion. This is the first comprehensive genetic study of a monozygotic triplet in ASD.
摘要：
印度有一些关于自闭症谱系障碍（ASD）的综合遗传研究。多胞胎的孩子对于复杂疾病如ASD的基因组学研究是有价值的。我们报告了三联体家族中的全外显子组测序（WES），其中三联体中只有一个患有ASD。这项研究的目的是鉴定ASD的潜在候选基因。使用扭曲人类定制核心外显子组试剂盒富集外显子组DNA，并进行配对末端测序。前带特异性从头变体包括150个单核苷酸多态性（SNP）和74个indels。13个SNP在外显子区域，其中7个是错觉变化。先前在ASD中报道了17种变体。带有变体的基因在中枢神经系统的发育和维持中具有功能，并且在涉及细胞粘附的生物过程中富集。这是ASD中单卵三联体的第一个综合遗传研究。
