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Whole-exome sequencing identifies two novel missense mutations (p.L111P and p.R3048C) of RYR3 in a Vietnamese patient with autism spectrum disorders

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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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This work was supported by a Grant of Vietnam Academy of Science and Technology (VAST02.02/15-16).

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Correspondence to Huy Hoang Nguyen.

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Thu Hien Nguyen, Thi Thanh Ngan Nguyen, Bac Viet Le, Ngoc Minh Thanh, Thi Kim Lien Nguyen, Van Hai Nong, Huy Hoang Nguyen declares that they have no conflict of interest.

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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (Ethical Committee at Institute of Genome Research, No. 02/QD-NCHG) and with the Helsinki Declaration of 1975, as revised in 2000.

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Informed consent was obtained from all participants for being included in the study.

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Nguyen, T.H., Nguyen, T.T.N., Le, B.V. et al. Whole-exome sequencing identifies two novel missense mutations (p.L111P and p.R3048C) of RYR3 in a Vietnamese patient with autism spectrum disorders. Genes Genom 39, 301–306 (2017).

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