Balkan Journal of Medical Genetics

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

INTRODUCTION

Childhood neurological disorders are a vast group of heterogenous conditions with a myriad of clinical presentations. Reaching a diagnosis can be challenging, time-consuming and costly. Sometimes, multiple imaging, laboratory investigations and ancillary procedures are exhausted trying to reach a final diagnosis [1]. Families also suffer from the dilemma of multiple investigations. Many neurological conditions in children present with variable degrees of presentations as well as different stages of progression, thus, multiple metabolic and genetic investigations are requested. Recently, whole exome sequencing (WES) has become an important diagnostic tool for many presumed genetic or idiopathic neurological conditions [2]. Whole exome sequencing is becoming rapidly available, costeffective and can be a shortcut to the diagnosis. Reaching a diagnosis in a child with a neurological disorder, counseling parents and preventing recurrences of similar conditions in his/her family is the essence of pediatric neurology practice. Nowadays, phenotype-based genetic testing and panels are slowly being substituted by WES [3]. The depth of screening using WES and variant coverage as well as identification of novel and pathogenic variants is rapidly improving. The increasing rate of WES sensitivity, expanding genetic databases, shorter turn-around time and decreasing prices of WES are appealing and promising [4]. In the Middle East region and Africa, consanguinity is common. In Saudi Arabia, 52.0-67.0% of marriages are from the same family and tribe [5,6]. This cultural practice can be associated with a higher percentage of neurogenetic and metabolic conditions [7]. The diagnostic yield of WES can range from 20.0 to 70.0% with a higher yield in consanguineous populations [8-12]. Few studies in the Middle East reviewed the outcomes of WES in children with neurological disorders in a population with high consanguinity rate such as Saudi Arabia [13-16]. Such characteristics could increase the yield of WES. In this cohort, the clinical characteristics and WES results of children with variable neurological disorders in Saudi Arabia are reviewed.

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