Exome sequencing in 90 children with developmental delay: a single-center experience.

ABSTRACT:

Introduction

Developmental delay (DD) in children is often caused by genetic abnormalities, which are challenging to diagnose due to the vast genetic variability.

Methods

This study presents a detailed analysis of whole-exome sequencing (WES) on 90 children with DD at a single clinical center.

Results

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 D

SUBMITTER: Boyarchuk O 

PROVIDER: S-EPMC11638168 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature