![]() Unlike that in Western populations, ASD is not well studied in Asia, where the prevalence of ASD varies from studies and populations, ranging from 0.09–1.07% in south Asia 26, 0.1018% in China 27 and 2.64% in Korea 4. The prevalence of ASD has been recently reported as high as 16. Genetic factors are known to play an important role in ASD aetiology, but that their elucidation is a work in progress 23, 24, 25. It is estimated that up to 1000 genes are potentially implicated ASD 21, 22, making it one of the most complex disorders. In fact, ASD is highly genetically heterogeneous due to multiple familial inheritance patterns and the occurrence of a large number of de novo variations. To date, over 100 genes have been identified as strongly linked to the risk of ASD 17, 18 and enriched in the following three main pathways: chromatin remodelling, transcription and splicing, and synaptic function 18, 19, 20. Recent genomic studies with large samples have explored new genes linked to ASD 15, 16. Other studies have revealed that non-coding de novo mutations in the promoter regions also affect ASD 13, 14. Meanwhile, de novo CNV and loss of function (LoF) mutations merely explain 2.6% of the variance in liability 12. Genome-wide association studies have indicated that common variations are risk factors for ASD 11, 12. Previous studies have shown that 5% to 15% of patients with ASD have inherited copy number variations (CNVs) or de novo CNVs in some affected genes with synaptic function 10. Males have a 4-fold higher incidence of ASD than females 9, suggesting the involvement of genetics in the aetiology of ASD. Recent studies have gradually emphasized the role of genetics in ASD, with up to 25% of ASD cases having genetically identifiable causes 8. ![]() The common psychiatric and cognitive comorbidities with ASD include intellectual disability (ID) 2, 3, 4, sleep deprivation 5, 6 and epilepsy (EP) 3, 7. Similar content being viewed by othersĪutism spectrum disorder (ASD) is a group of neurodevelopmental disorders that includes autism, Asperger’s syndrome and pervasive developmental disorder not otherwise specified and is characterized by restricted repetitive behaviour, delays in language development and lack of reciprocal social communication and interaction 1. Taken together, this study adds to the genetic heterogeneity of ASD and is the first report elucidating the genetic landscape of ASD in Vietnamese children. ![]() Gene ontology and phenotype-genotype analysis suggested that variants in IGF1, SYP and LAS1L could plausibly confer risk for ASD. In addition, we identified six genes that have not been previously reported in any autism database: CHM, ENPP1, IGF1, LAS1L, SYP and TBX22. We uncovered 17 genes from our ASD cohort in which CHD8, DYRK1A, GRIN2B, SCN2A, OFD1 and MDB5 have been previously identified as ASD risk genes, suggesting the universal aetiology of ASD for these genes. Interestingly, a notable number of X-linked variants were detected (56%), and all of them were found in affected males but not in affected females. Our stringent analysis pipeline was able to detect 18 unique variants (8 de novo and 10 ×-linked, all validated), including 12 newly discovered variants. Here, we first conducted whole exome sequencing (WES) of 100 children with ASD and their unaffected parents. However, studies of ASD in the Vietnamese population are limited. Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%.
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