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A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencingстатья
- Авторы: Gibitova Ekaterina A., Dobrynin Pavel V., Pomerantseva Ekaterina A., Musatova Elizaveta V., Kostareva Anna, Evsyukov Igor, Rychkov Sergey Y., Zhukova Olga V., Naumova Oxana Y., Grigorenko Elena L.
- Журнал: Genes
- Том: 13
- Номер: 5
- Год издания: 2022
- Издательство: MDPI
- Местоположение издательства: Basel, Switzerland
- Первая страница: 920
- DOI: 10.3390/genes13050920
- Аннотация: 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 (IGLJ2, FAM21A, OR11H12, HIP1, PRAMEF10, and ZNF717) regarding their potential involvement in ASD.
- Добавил в систему: Евсюков Игорь Валерьевич