Whole-exome sequencing identifies two novel missense mutations (p.L111P and p.R3048C) of RYR3 in a Vietnamese patient with autism spectrum disorders
2017
Thu Hien Nguyen, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam | Thi Thanh Ngan Nguyen, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam | Bac Viet Le, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam | Ngoc Minh Thanh, National Hospital of Pediatrics, Hanoi, Vietnam | Thi Kim Lien Nguyen, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam | Van Hai Nong, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam | Huy Hoang Nguyen, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam
Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders characterized by ritualistic-repetitive behaviors and impaired verbal and non-verbal communication. Boys are more likely to be diagnosed with ASD than girls. Genetics have been shown to play a key role in the etiology of autism. Many genes were found to be implicated in the inheritance of idiopathic autism. Analysis of mutation abnormalities associated with autism contributes significantly to the identification of autism candidate genes. Whole-exome sequencing has been shown as an application of the next generation sequencing technology used to determine the variations of all coding regions, or exons of the known genes. In the present study, we have found two novel heterozygous missense mutations (p.L111P and p.R3048C) on the RYR3 gene, which was located in the autism susceptibility region (15q14-q15) in a 9-year-old boy with ASD. Therefore, the sequence missense mutations provide the first suggestive link between a genetic abnormality in the RYR3 gene and a neurodevelopmental disorder.
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