PDF(Pubmed)
Abstract：
Autism spectrum disorder (ASD) manifests as a neurodevelopmental condition marked by challenges in social communication, interaction and the performing of repetitive behaviors. The prevalence of autism increases markedly on an annual basis; however, the etiology remains incompletely understood. Cytogenetically visible chromosomal abnormalities, including copy number variations (CNVs), have been shown to contribute to the pathogenesis of ASD. More than 1% of ASD conditions can be explained based on a known genetic locus, whereas CNVs account for 5-10% of cases. However, there are no studies on the Saudi Arabian population for the detection of CNVs linked to ASD, to the best of our knowledge. Therefore, the aim of the present study was to explore the prevalence of CNVs in autistic Saudi Arabian children. Genomic DNA was extracted from the peripheral blood of 14 autistic children along with four healthy control children and then array-based comparative genomic hybridization (aCGH) was used to detect CNVs. Bioinformatics analysis of the aCGH results showed the presence of recurrent and non-recurrent deletion/duplication CNVs in several regions of the genome of autistic children. The most frequent CNVs were 1q21.2, 3p26.3, 4q13.2, 6p25.3, 6q24.2, 7p21.1, 7q34, 7q11.1, 8p23.2, 13q32.3, 14q11.1-q11.2 and 15q11.1-q11.2. In the present study, CNVs in autistic Saudi Arabian children were identified to improve the understanding of the etiology of autism and facilitate its diagnosis. Additionally, the present study identified certain possible pathogenic genes in the CNV region associated with several developmental and neurogenetic diseases.
摘要：
自闭症谱系障碍（ASD）表现为一种神经发育状况，其特征是社会交往中的挑战，互动和重复行为的执行。自闭症的患病率每年显着增加；然而，病因尚不完全清楚。细胞遗传学可见的染色体异常，包括拷贝数变异(CNVs)，已被证明有助于ASD的发病机制。超过1％的ASD条件可以根据已知的遗传基因位点来解释，而CNVs占病例的5-10%。然而,没有关于沙特阿拉伯人口的研究来检测与ASD相关的CNV，据我们所知.因此,本研究的目的是探讨沙特阿拉伯自闭症儿童中CNV的患病率.从14名自闭症儿童和4名健康对照儿童的外周血中提取基因组DNA，然后使用基于阵列的比较基因组杂交（aCGH）检测CNV。aCGH结果的生物信息学分析显示，自闭症儿童基因组的几个区域中存在复发性和非复发性缺失/重复CNV。最常见的CNV是1q21.2、3p26.3、4q13.2、6p25.3、6q24.2、7p21.1、7q34、7q11.1、8p23.2、13q32.3、14q11.1-q11.2和15q11.1-q11.2。在本研究中,确定了自闭症沙特阿拉伯儿童的CNV，以提高对自闭症病因的理解并促进其诊断。此外,本研究确定了与几种发育和神经遗传疾病相关的CNV区域的某些可能的致病基因。
