THE UTILITY OF WHOLE EXOME SEQUENCING
IN DIAGNOSING PEDIATRIC NEUROLOGICAL DISORDERS
Muthaffar OY
*Corresponding Author: Osama Y. Muthaffar, M.D., Department of Pediatrics, King Abdulaziz
University, Jeddah, PO Box 80215, Jeddah 21589, Kingdom of Saudi Arabia. Tel.: +96-12-640-1000
(ext. 20208). Fax: 996-12-640-3975. E-mail: oymuthaffar@kau.edu.sa; osamam@hotmail.com
page: 17
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Abstract
Pediatric neurological disorders have a wide spectrum
of clinical presentations and can be challenging to
diagnose. Whole exome sequencing (WES) is increasingly
becoming an integral diagnostic tool in medicine. It is
cost-effective and has high diagnostic yield, especially in
consanguineous populations. This study aims to review
WES results and its value in diagnosing neurological disorders.
A retrospective chart review was performed for WES
results between the period of January 2018 to November
2019. Whole exome sequencing was requested for children
with unexplained neurological signs and symptoms such
as epilepsy, developmental delay, visual impairment, spasticity,
hypotonia and magnetic resonance imaging (MRI)
brain changes. It was conducted for children in a pediatric
neurology clinic of a tertiary center at Jeddah, Saudi Arabia.
Twenty-six children with undiagnosed neurological
conditions were identified and underwent WES diagnosis.
Nineteen patients (73.0%) of the cohort were diagnosed
with pathogenic variants, likely pathogenic variants or
variants of unknown significance (VUS). Consanguinity
was positive in 18 families of the cohort (69.0%). Seven
patients showed homozygous mutations. Five patients had
heterozygous mutations. There were six patients with VUS
and six patients had negative WES results. Whole exome
sequencing showed a high diagnostic rate in this group of
children with variable neurological disorders.
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