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.

This study reports the results of the analysis of exome variations in an isolated rural population from northern European Russia. Initially a monastic settlement, this population has a 500-year history of relative cultural and geographical isolation. A unique feature of this population is the high prevalence of speech and language disorders. We performed whole-exome sequencing (WES) of one-generation individuals (children). We found that this population is characterized by high levels of inbreeding and autozygosity and a high genetic load, including potentially deleterious single nucleotide variants (SNV) and copy number variations (CNV). Moreover, a significant majority of the SNV and CNV was found in loci controlling CNS development and function, including the variations associated with developmental impairments. We assume that such a genetic load may underlie the high prevalence rate of speech and language disorders in the population.