A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing.
Ekaterina A GibitovaPavel V DobryninEkaterina A PomerantsevaElizaveta V MusatovaAnna KostarevaIgor EvsyukovSergey Y RychkovOlga V ZhukovaOxana Yu NaumovaElena L GrigorenkoPublished in: Genes (2022)
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.
Keyphrases
- copy number
- autism spectrum disorder
- genome wide
- mitochondrial dna
- attention deficit hyperactivity disorder
- intellectual disability
- dna methylation
- end stage renal disease
- ejection fraction
- healthcare
- mental health
- emergency department
- chronic kidney disease
- big data
- electronic health record
- peritoneal dialysis
- transcription factor
- patient reported outcomes
- bioinformatics analysis
- total hip arthroplasty
- deep learning
- working memory