Exome Sequencing Detection of Genetic Markers for Thai Autism Spectrum Disorder

Abstract

Background

Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by abnormalities in 3 domains; social interaction, communication/language, and restricted and repetitive behavior. The study of ASD prevalence in Thailand showed that it is approximately 9.9 children per 10,000 population for children 1–5 years old. ASD has a strong genetic basis, although the genetics of autism are complex and it is unclear. The objective of this study was to identify the genetic markers of Thai ASD.

Methods

Exome sequencing was performed with twelve unrelated ASD affected individuals from twelve families. Each sample was sequenced on SOLiD 5500xl genetic analyzer, and the resulting data was processed and analyzed on LifeScope Genomic Analysis software. Exome sequencing with two additional samples was performed Ion Proton System and the data was processed on Ion Reporter server. Tertiary data analysis with all fourteen exome sequencing data were performed by using Golden Helix software. In filtering process, data were annotated to various databases including UCSC KnownGenes for non-coding and synonymous variants filter, 1000 Genomes Project for high frequency variants filter, and dbNSFP for functional prediction.

Results

The genetic markers were identified for Thai ASD associated variants (c.2014G > A in EIF2AK3, c.2951G > A in FGD6, and c.6119A > G in CHD8).

Conclusions

these genetic markers were the most possible of causing variants Thai. We also demonstrated a potential of exome sequencing and bioinformatics pipeline to identify the possible causative variants of ASD, which could by applied in the case that unable to identified variants by other technique.

Disclosure of interest

The author has not supplied his/her declaration of competing interest.