Genes & Genomics

, Volume 39, Issue 3, pp 301–306

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

  • Thu Hien Nguyen
  • Thi Thanh Ngan Nguyen
  • Bac Viet Le
  • Ngoc Minh Thanh
  • Thi Kim Lien Nguyen
  • Van Hai Nong
  • Huy Hoang Nguyen
Research Article

DOI: 10.1007/s13258-016-0495-2

Cite this article as:
Nguyen, T.H., Nguyen, T.T.N., Le, B.V. et al. Genes Genom (2017) 39: 301. doi:10.1007/s13258-016-0495-2
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Abstract

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.

Keywords

Autistic spectrum disorder Autism Ca2+ channel RYR3 gene Whole-exome sequencing 

Supplementary material

13258_2016_495_MOESM1_ESM.doc (501 kb)
Supplementary material 1 (DOC 501 kb)

Copyright information

© The Genetics Society of Korea and Springer-Science and Media 2016

Authors and Affiliations

  • Thu Hien Nguyen
    • 1
  • Thi Thanh Ngan Nguyen
    • 1
  • Bac Viet Le
    • 1
  • Ngoc Minh Thanh
    • 2
  • Thi Kim Lien Nguyen
    • 1
  • Van Hai Nong
    • 1
  • Huy Hoang Nguyen
    • 1
  1. 1.Institute of Genome ResearchVietnam Academy of Science and Technology (VAST)HanoiVietnam
  2. 2.National Hospital of PediatricsHanoiVietnam