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ORIGINAL RESEARCH article

Front. Genet.
Sec. Epigenomics and Epigenetics
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1505254
This article is part of the Research Topic Decoding Complexity: Genomic, Epigenomic, and Environmental Dynamics in Developmental and Neurogenetic Disorders View all articles

Exome sequencing in 90 children with developmental delay: a singlecenter experience

Provisionally accepted
Oksana Boyarchuk Oksana Boyarchuk 1*Liubov Volianska Liubov Volianska 1Olena Smashna Olena Smashna 1Halyna Makukh Halyna Makukh 2
  • 1 Ternopil State Medical University, Ternopil, Ukraine
  • 2 Scientific Medical Genetic Center LeoGENE, LTD, Lviv, Ukraine

The final, formatted version of the article will be published soon.

    Introduction: Developmental delay (DD) in children is often caused by genetic abnormalities, which are challenging to diagnose due to the vast genetic variability.This study presents a detailed analysis of whole-exome sequencing (WES) on 90 children with DD at a single clinical center.We identified pathogenic or likely pathogenic variants in 27.8% of cases, with 7.8% revealing variants of uncertain significance (VUS). Among the positive findings, 21 (84.0%) corresponded to the main clinical manifestations in patients, and 4 (16.0%) secondary findings provided new insights into the patient's conditions. Positive and inconclusive cases led to a revision of the diagnosis or management plan in 34.4% of cases. The positive genetic result in children with DD was higher in the presence of epilepsy or seizures (odds ratio -5.4444; 95% CI 2.0176 to 14.6918; p=0.0008) and more than 3 dysmorphic features (odds ratio -7.1739; 95% CI 1.7791 to 28.9282; p=0.0056). Variants compatible with the clinical manifestations were identified in 11.9% of children with autistic spectrum disorders.Our findings emphasize the utility of WES in clinical diagnostics, offering significant insights into patient management and potentially guiding therapeutic decisions.

    Keywords: developmental delay, whole exome sequencing, WES, Autism Spectrum Disorders, Epilepsy

    Received: 02 Oct 2024; Accepted: 18 Nov 2024.

    Copyright: © 2024 Boyarchuk, Volianska, Smashna and Makukh. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Oksana Boyarchuk, Ternopil State Medical University, Ternopil, Ukraine

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.