Work

A Low Pass Whole-Genome Sequencing Revealed Copy Number Variations in 7 Out of 33 Bulgarian Patients Having Neurodevelopmental Disorders with Features of Autism Spectrum Disorder

Year: 2025

Type: article

Abstract: Autism Spectrum Disorder (ASD) is a common genetically based neurobehavioral disorder in which epigenetic and environmental factors are involved.We performed a low pass whole-genome sequencing to identify Copy Number Variations (CNVs) in 33 Bulgarian patients (26 males and 7 females) sharing autistic features and clinically diagnosed with neurodevelopmental disorders.In 7 patients (~21%), 3 girls and 4 boys, large pathogenic chromosomal rearrangements were detected, including three duplications (at 8p21.3p23.3,15q11.2q13.1, and Xq22.1q22.2) and 4 deletions (at 3q26.33q27.1,5q14.3q21.1,6q25.3, and 20q13.11q13.13).Moreover, in one patient the detected deletion covers ARID1B gene known to be involved in both bone and neurological development.Our data contributes to better understanding the genetic basis of ASD and the mechanisms intricated in the development of its specific characteristics and in its gender specific manifestations.

Source: Family Medicine and Primary Care Open Access

DOI: 10.29011/2688-7460.100279

Authors: Milen Zamfirov, Lyudmila Belenska-Todorova, Tihomir Todorov, Albena Todorova-

Institutions: Sofia University "St. Kliment Ohridski", Medical University of Sofia

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Funders: European Commission, NextGenerationEU