Molecular genetics of neurodevelopmental disorders in Ukrainian children
DOI:
https://doi.org/10.15574/SP.2026.1(153).8289Keywords:
neurodevelopmental disorders, pediatrics, molecular diagnostics, functional enrichment analysis, lipid metabolismAbstract
Neurodevelopmental disorders make a significant contribution to pediatric pathologies. This group of diseases varies symptomatically and has various underlying molecular reasons, which result in the necessity of personalized diagnostic and treatment protocols.
Aim - to detect metabolic pathways and molecular markers potentially contributing to the development of the pathological phenotype in pediatric patients with neural pathology.
Materials and methods. Selection of the patient’s cohort for the pilot study was done during consultations provided by pediatricians, geneticists, and neurologists following principles of an interdisciplinary approach in diagnostic and management of children with developmental abnormalities. Further analysis of detected DNA variations, along with structural and functional predictions, was done using the SNP-NEXUS tool.
Results. The work presented in this manuscript enabled the identification of all detected genomic variations that may be associated with the chosen clinical phenotype in the small cohort of patients. Further functional enrichment analysis allowed us to identify various biological cellular processes that may be affected by the identified genomic alterations. Particularly, we found metabolic pathways with high enrichment score for possibly pathogenic and probably pathogenic amino acid substitutions in proteins, with lipid metabolism having the highest enrichment score.
Conclusions. Predictive and functional enrichment analysis of SNV (Single Nucleotide Variation) patterns detected by DNA sequencing on a small cohort of pediatric patients with neurodevelopmental pathology allowed us to identify cellular processes and proteins that potentially play a role in neural pathology. Further investigation in a higher number of patients and search for statistically significant associations of the preselected targets with the phenotype may help to improve the diagnostic and treatment approach for the selected pathology.
The study was conducted in accordance with the principles of the Declaration of Helsinki. The research protocol was approved by the Local Ethics Committee of the institution. Informed parental consent was obtained for participation in the study.
The authors declare no conflict of interest.
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