Autism spectrum disorder (ASD) is a relatively common childhood onset neurodevelopmental disorder with a complex genetic etiology. While progress has been made in identifying the de novo mutational landscape of ASD, the genetic factors that underpin the ASD's tendency to run in families are not well understood. In this study, nine extended pedigrees each with three or more individuals with ASD, and others with a lesser autism phenotype, were phenotyped and genotyped in an attempt to identify heritable copy number variants (CNVs). Although these families have previously generated linkage signals, no rare CNV segregated with these signals in any family. A small number of clinically relevant CNVs were identified. Only one CNV was identified that segregated with ASD phenotype; namely, a duplication overlapping DLGAP2 in three male offspring each with an ASD diagnosis. This gene encodes a synaptic scaffolding protein, part of a group of proteins known to be pathologically implicated in ASD. On the whole, however, the heritable nature of ASD in the families studied remains poorly understood.

中文翻译：

---

扩展自闭症谱系（ASD）谱系中拷贝数变异的分离模式。

自闭症谱系障碍（ASD）是一种较常见的儿童发作神经发育障碍，具有复杂的遗传病因。尽管在确定ASD的从头突变格局方面已取得进展，但对ASD在家庭中奔跑的趋势所基于的遗传因素却知之甚少。在这项研究中，对9个延伸谱系进行表型和基因分型，以每个基因组分别与3个或更多的ASD个体以及其他自闭症表型较弱的个体进行表型和基因分型，以鉴定可遗传的拷贝数变异体（CNV）。尽管这些家族先前已经产生了连锁信号，但是在任何家族中都没有罕见的CNV与这些信号分离。鉴定出少量临床相关的CNV。仅鉴定出一种与ASD表型分离的CNV。即重复重叠的DLGAP2在三个具有ASD诊断的雄性后代中。该基因编码突触支架蛋白，突触支架蛋白是已知与ASD病理相关的一组蛋白质的一部分。总体而言，在所研究的家庭中，ASD的遗传性质仍知之甚少。