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Next generation sequencing of 134 children with autism spectrum disorder and regression

Approximately 30% of individuals with autism spectrum disorder (ASD) experience developmental regression, the etiology of which remains largely unknown. We performed a complete literature search and identified 47 genes that had been implicated in such cases. We sequenced these genes in a preselected...

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Main Authors: Yin, Jiani (Author) , Chun, Chun-An (Author) , Zavadenko, Nikolay N. (Author) , Pechatnikova, Natalia L. (Author) , Naumova, Oxana Yu (Author) , Doddapaneni, Harsha V. (Author) , Hu, Jianhong (Author) , Muzny, Donna M. (Author) , Schaaf, Christian P. (Author) , Grigorenko, Elena L. (Author)
Format: Article (Journal)
Language:English
Published: 25 July 2020
In: Genes
Year: 2020, Volume: 11, Issue: 8
ISSN:2073-4425
DOI:10.3390/genes11080853
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.3390/genes11080853
Verlag, lizenzpflichtig, Volltext: https://www.mdpi.com/2073-4425/11/8/853
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Author Notes:Jiani Yin, Chun-An Chun, Nikolay N. Zavadenko, Natalia L. Pechatnikova, Oxana Yu Naumova, Harsha V. Doddapaneni, Jianhong Hu, Donna M. Muzny, Christian P. Schaaf and Elena L. Grigorenko

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520 |a Approximately 30% of individuals with autism spectrum disorder (ASD) experience developmental regression, the etiology of which remains largely unknown. We performed a complete literature search and identified 47 genes that had been implicated in such cases. We sequenced these genes in a preselected cohort of 134 individuals with regressive autism. In total, 16 variants in 12 genes with evidence supportive of pathogenicity were identified. They were classified as variants of uncertain significance based on ACMG standards and guidelines. Among these were recurring variants in GRIN2A and PLXNB2, variants in genes that were linked to syndromic forms of ASD (GRIN2A, MECP2, CDKL5, SCN1A,PCDH19, UBE3A, and SLC9A6), and variants in the form of oligogenic heterozygosity (EHMT1, SLC9A6, and MFSD8). 
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