what genetic testing and autism spectrum disorders

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%.

What genetic testing and autism spectrum disorders