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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Bibliographic Details
Published in:Genes 2020-07, Vol.11 (8), p.853
Main Authors: Yin, Jiani, Chun, Chun-An, Zavadenko, Nikolay N, Pechatnikova, Natalia L, Naumova, Oxana Yu, Doddapaneni, Harsha V, Hu, Jianhong, Muzny, Donna M, Schaaf, Christian P, Grigorenko, Elena L
Format: Article
Language:English
Subjects:
Autism
Autism Spectrum Disorder - genetics
Autism Spectrum Disorder - pathology
Autistic children
Child
Child, Preschool
Cohort Studies
Deoxyribonucleic acid
Disease Progression
DNA
DNA polymerase
DNA sequencing
Etiology
Female
Gene Expression Regulation
Genes
Genetic aspects
Genetic Markers
Genetic Predisposition to Disease
Genomes
Heterozygosity
High-Throughput Nucleotide Sequencing - methods
Humans
Hybridization
Infant
Male
MeCP2 protein
Methods
Methyl-CpG binding protein
Mutation
Next-generation sequencing
Nucleotide sequencing
Pathogenicity
Recruitment
Sodium channels (voltage-gated)
Software
Ubiquitin-protein ligase
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Summary: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 and , variants in genes that were linked to syndromic forms of ASD ( , , , , , and ), and variants in the form of oligogenic heterozygosity ( , , and ).
ISSN:2073-4425
2073-4425
DOI:10.3390/genes11080853