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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MDPI AG
2020-07-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/11/8/853 |
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| author | 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 Elena L. Grigorenko |
| author_facet | 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 Elena L. Grigorenko |
| author_sort | Jiani Yin |
| collection | DOAJ |
| description | 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 <i>GRIN2A</i> and <i>PLXNB2</i>, variants in genes that were linked to syndromic forms of ASD (<i>GRIN2A</i>, <i>MECP2</i>, <i>CDKL5</i>, <i>SCN1A,</i><i>PCDH19</i>, <i>UBE3A</i>, and <i>SLC9A6</i>), and variants in the form of oligogenic heterozygosity (<i>EHMT1</i>, <i>SLC9A6</i>, and <i>MFSD8</i>). |
| first_indexed | 2024-03-10T18:12:56Z |
| format | Article |
| id | doaj.art-5763363bee5343f281f9a5e46d4959cd |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T18:12:56Z |
| publishDate | 2020-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-5763363bee5343f281f9a5e46d4959cd2023-11-20T07:58:39ZengMDPI AGGenes2073-44252020-07-0111885310.3390/genes11080853Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and RegressionJiani Yin0Chun-An Chun1Nikolay N. Zavadenko2Natalia L. Pechatnikova3Oxana Yu. Naumova4Harsha V. Doddapaneni5Jianhong Hu6Donna M. Muzny7Christian P. Schaaf8Elena L. Grigorenko9Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX 77030, USAMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX 77030, USANeurology, Neurosurgery and Medical Genetics, Department of Pediatrics, Pirogov Russian National Research Medical University, 117997 Moscow, RussiaNeurology, Neurosurgery and Medical Genetics, Department of Pediatrics, Pirogov Russian National Research Medical University, 117997 Moscow, RussiaTexas Institute for Measurement, Evaluation, and Statistics, University of Houston, Houston, TX 77024, USAHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USAHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USAHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USAMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX 77030, USAMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX 77030, USAApproximately 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 <i>GRIN2A</i> and <i>PLXNB2</i>, variants in genes that were linked to syndromic forms of ASD (<i>GRIN2A</i>, <i>MECP2</i>, <i>CDKL5</i>, <i>SCN1A,</i><i>PCDH19</i>, <i>UBE3A</i>, and <i>SLC9A6</i>), and variants in the form of oligogenic heterozygosity (<i>EHMT1</i>, <i>SLC9A6</i>, and <i>MFSD8</i>).https://www.mdpi.com/2073-4425/11/8/853autismdevelopmental regressionexon capture and sequencingvariant classificationACMG standards and guidelines |
| spellingShingle | 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 Elena L. Grigorenko Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression Genes autism developmental regression exon capture and sequencing variant classification ACMG standards and guidelines |
| title | Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression |
| title_full | Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression |
| title_fullStr | Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression |
| title_full_unstemmed | Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression |
| title_short | Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression |
| title_sort | next generation sequencing of 134 children with autism spectrum disorder and regression |
| topic | autism developmental regression exon capture and sequencing variant classification ACMG standards and guidelines |
| url | https://www.mdpi.com/2073-4425/11/8/853 |
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