A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing
This study provides new data on the whole-exome sequencing of a cohort of children with autistic spectrum disorders (ASD) from an underexplored Russian population. Using both a cross-sectional approach involving a control cohort of the same ancestry and an annotation-based approach involving relevan...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-05-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/5/920 |
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| author | Ekaterina A. Gibitova Pavel V. Dobrynin Ekaterina A. Pomerantseva Elizaveta V. Musatova Anna Kostareva Igor Evsyukov Sergey Y. Rychkov Olga V. Zhukova Oxana Y. Naumova Elena L. Grigorenko |
| author_facet | Ekaterina A. Gibitova Pavel V. Dobrynin Ekaterina A. Pomerantseva Elizaveta V. Musatova Anna Kostareva Igor Evsyukov Sergey Y. Rychkov Olga V. Zhukova Oxana Y. Naumova Elena L. Grigorenko |
| author_sort | Ekaterina A. Gibitova |
| collection | DOAJ |
| description | This study provides new data on the whole-exome sequencing of a cohort of children with autistic spectrum disorders (ASD) from an underexplored Russian population. Using both a cross-sectional approach involving a control cohort of the same ancestry and an annotation-based approach involving relevant public databases, we explored exonic single nucleotide variants and copy-number variation potentially involved in the manifestation of ASD. The study results reveal new potential ASD candidate-variants found in the studied Russian cohort and show a high prevalence of common ASD-associated genomic variants, especially those in the genes known to be associated with the manifestation of intellectual disabilities. Our screening of an ASD cohort from a previously understudied population allowed us to flag at least a few novel genes (<i>IGLJ2</i>, <i>FAM21A</i>, <i>OR11H12</i>, <i>HIP1</i>, <i>PRAMEF10</i>, and <i>ZNF717</i>) regarding their potential involvement in ASD. |
| first_indexed | 2024-03-10T03:49:35Z |
| format | Article |
| id | doaj.art-b7983555b2d04010b355acdf316b47c3 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T03:49:35Z |
| publishDate | 2022-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-b7983555b2d04010b355acdf316b47c32023-11-23T11:11:37ZengMDPI AGGenes2073-44252022-05-0113592010.3390/genes13050920A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome SequencingEkaterina A. Gibitova0Pavel V. Dobrynin1Ekaterina A. Pomerantseva2Elizaveta V. Musatova3Anna Kostareva4Igor Evsyukov5Sergey Y. Rychkov6Olga V. Zhukova7Oxana Y. Naumova8Elena L. Grigorenko9Computer Technologies Laboratory, University of Information Technologies, Mechanics and Optics, Saint Petersburg 197101, RussiaComputer Technologies Laboratory, University of Information Technologies, Mechanics and Optics, Saint Petersburg 197101, RussiaThe ‘Genetico’ Center for Genetics and Reproductive Medicine, Moscow 119333, RussiaThe ‘Genetico’ Center for Genetics and Reproductive Medicine, Moscow 119333, RussiaAlmazov National Medical Research Centre, Saint Petersburg 197341, RussiaComputer Technologies Laboratory, University of Information Technologies, Mechanics and Optics, Saint Petersburg 197101, RussiaHuman Genetics Laboratory, Vavilov Institute of General Genetics RAS, Moscow 119991, RussiaHuman Genetics Laboratory, Vavilov Institute of General Genetics RAS, Moscow 119991, RussiaHuman Genetics Laboratory, Vavilov Institute of General Genetics RAS, Moscow 119991, RussiaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USAThis study provides new data on the whole-exome sequencing of a cohort of children with autistic spectrum disorders (ASD) from an underexplored Russian population. Using both a cross-sectional approach involving a control cohort of the same ancestry and an annotation-based approach involving relevant public databases, we explored exonic single nucleotide variants and copy-number variation potentially involved in the manifestation of ASD. The study results reveal new potential ASD candidate-variants found in the studied Russian cohort and show a high prevalence of common ASD-associated genomic variants, especially those in the genes known to be associated with the manifestation of intellectual disabilities. Our screening of an ASD cohort from a previously understudied population allowed us to flag at least a few novel genes (<i>IGLJ2</i>, <i>FAM21A</i>, <i>OR11H12</i>, <i>HIP1</i>, <i>PRAMEF10</i>, and <i>ZNF717</i>) regarding their potential involvement in ASD.https://www.mdpi.com/2073-4425/13/5/920Autistic Spectrum Disorderwhole-exome sequencingRussian cohortcopy number variation |
| spellingShingle | Ekaterina A. Gibitova Pavel V. Dobrynin Ekaterina A. Pomerantseva Elizaveta V. Musatova Anna Kostareva Igor Evsyukov Sergey Y. Rychkov Olga V. Zhukova Oxana Y. Naumova Elena L. Grigorenko A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing Genes Autistic Spectrum Disorder whole-exome sequencing Russian cohort copy number variation |
| title | A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing |
| title_full | A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing |
| title_fullStr | A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing |
| title_full_unstemmed | A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing |
| title_short | A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing |
| title_sort | study of the genomic variations associated with autistic spectrum disorders in a russian cohort of patients using whole exome sequencing |
| topic | Autistic Spectrum Disorder whole-exome sequencing Russian cohort copy number variation |
| url | https://www.mdpi.com/2073-4425/13/5/920 |
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