Abstract
The examination of copy number variation (CNV) is critical to understand the etiology of the CNV-related autism spectrum disorders (ASD). DNA samples were obtained from 64 ASD probands, which were genotyped on an Affymetrix CytoScan HD platform. qPCR or FISH were used as a validation for some novel recurrent CNVs. We further compared the clinical phenotypes of the genes in the Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources (DECIPHER) database with these overlapping genes. Using vast, readily available databases with previously reported clinically relevant CNVs from human populations, the genes were evaluated using Enrichment Analysis and GO Slim Classification. By using the Ploysearch2 software, we identified the interaction relationship between significant genes and known ASD genes. A total of 29 CNVs, overlapping with 520 genes, including 315 OMIM genes, were identified. Additionally, myocyte enhancer factor 2 family (MEF2C) with two cases of CNV overlapping were also identified. Enrichment analysis showed that the 520 genes are most likely to be related to membrane components with protein-binding functions involved in metabolic processes. In the interaction network of those genes, the known ASD genes are mostly at the core position and the significant genes found in our samples are closely related to the known ASD genes. CNVs should be an independent factor to induce autism. With the strategy of our study, we could find the ASDs candidate genes by CNV data and review certain pathogenesis of this disorder. Those CNVs were associated with ASD and they may contribute to ASD by affecting the ASD-related genes.
Highlights
autism spectrum disorder (ASD) (OMIM 209850) represent a group of neurodevelopmental disorders present in 1% of the population, characterized by impairments in communication and reciprocal social interactions [1]
The myocyte enhancer factor 2 family (MEF2C) deletion might be a factor in the induction of autism
Genes associated with metabolic disorders may be considered as candidate ASD genes
Summary
ASDs (OMIM 209850) represent a group of neurodevelopmental disorders present in 1% of the population, characterized by impairments in communication and reciprocal social interactions [1]. 10% of the ASD population possesses large chromosomal rearrangements [1,2]. Chromosomal microarray analyses (CMA) have offered high diagnostic ability for the detection of genomic CNVs in clinical diagnostics. CNVs alter the genome structure leading to Mendelian diseases and complex traits, including ASDs. The contribution of CNVs to genomic c 2017 The Author(s). The contribution of CNVs to genomic c 2017 The Author(s)
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