1. A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing.
- Author
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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., and Grigorenko, Elena L.
- Subjects
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AUTISM spectrum disorders , *CHILDREN with autism spectrum disorders , *SINGLE nucleotide polymorphisms , *AUTISTIC children , *INTELLECTUAL disabilities - Abstract
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. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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