Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.

TitleNext Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.
Publication TypeJournal Article
Year of Publication2020
AuthorsYin, J, Chun, C-A, Zavadenko, NN, Pechatnikova, NL, Naumova, OYu, Doddapaneni, H, Hu, J, Muzny, DM, Schaaf, CP, Grigorenko, EL
JournalGenes (Basel)
Volume11
Issue8
Date Published2020 Jul 25
ISSN2073-4425
Abstract

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 ).

DOI10.3390/genes11080853
Alternate JournalGenes (Basel)
PubMed ID32722525
PubMed Central IDPMC7463850
Grant ListUM1HG008898 / NH / NIH HHS / United States
17-29-02384 / / Russian Foundation for Basic Research /