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A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using
Ekaterina A Gibitova1, Pavel V Dobrynin1,2,3, Ekaterina A Pomerantseva4
1Computer Technologies Laboratory, University of Information Technologies, Mechanics and Optics, Saint Petersburg 197101, Russia.
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.
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