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| Title | Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. |
| Publication Type | Journal Article |
| Year of Publication | 2020 |
| Authors | Yin, J, Chun, C-A, Zavadenko, NN, Pechatnikova, NL, Naumova, OYu, Doddapaneni, HV, Hu, J, Muzny, DM, Schaaf, CP, Grigorenko, EL |
| Journal | Genes (Basel) |
| Volume | 11 |
| Issue | 8 |
| Date Published | 2020 07 25 |
| ISSN | 2073-4425 |
| Keywords | Autism Spectrum Disorder, Child, Child, Preschool, Cohort Studies, Disease Progression, Female, Gene Expression Regulation, Genetic Markers, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Humans, Infant, Male, Mutation |
| 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 ). |
| DOI | 10.3390/genes11080853 |
| Alternate Journal | Genes (Basel) |
| PubMed ID | 32722525 |
| PubMed Central ID | PMC7463850 |
| Grant List | UM1HG008898 / NH / NIH HHS / United States |
