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, 2018, 8231547

Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family With Autism Spectrum Disorder


Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family With Autism Spectrum Disorder

Chuphong Thongnak et al. Int J Genomics.


Autism spectrum disorder (ASD) has a strong genetic basis, although the genetics of autism is complex and it is unclear. Genetic testing such as microarray or sequencing was widely used to identify autism markers, but they are unsuccessful in several cases. The objective of this study is to identify causative variants of autism in two Thai families by using whole-exome sequencing technique. Whole-exome sequencing was performed with autism-affected children from two unrelated families. Each sample was sequenced on SOLiD 5500xl Genetic Analyzer system followed by combined bioinformatics pipeline including annotation and filtering process to identify candidate variants. Candidate variants were validated, and the segregation study with other family members was performed using Sanger sequencing. This study identified a possible causative variant for ASD, c.2951G>A, in the FGD6 gene. We demonstrated the potential for ASD genetic variants associated with ASD using whole-exome sequencing and a bioinformatics filtering procedure. These techniques could be useful in identifying possible causative ASD variants, especially in cases in which variants cannot be identified by other techniques.


Figure 1
Figure 1
Pedigree of the family with autism indicated by the dark symbol. Gray symbol indicates learning disability phenotype. Females are indicated by circles and males by squares.
Figure 2
Figure 2
Filtering procedure of variants obtained by whole-exome sequencing 2nd data analysis. The number indicates an amount of variants passed for each step.
Figure 3
Figure 3
Chromatograms of 2 heterozygous missense variants in EIF2AK3 (a), FGD6 (b), and CHD8 (c) gene. Letters in indicate complementary (FWD) alleles.

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