The Genetic Diversity and Structure of an Isolated Population from Northern European Russia Based on Whole-Exome Sequencing Data

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.