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

MATERIAL AND METHODS

A retrospective chart review for 26 children with undiagnosed neurological conditions was performed from January 2018 to November 2019. These neurological disorders ranged between developmental delay, hypotonia, epilepsy, loss of vision, ataxia, white matter changes, intellectual delay, encephalopathy and metabolic abnormalities. This review was conducted for children attending the pediatric neurology clinic at King Abdulaziz University, Jeddah, Saudi Arabia. Medical history, patients’ demographics, history of consanguinity (second cousin or closer), clinical examination and neuroimaging were reviewed and documented. All patients underwent proband-only WES. Further segregation analyses were performed for parents planning future pregnancies. Whole exome sequencing was performed in an accredited laboratories, Centogene in Rostock, Germany and Blueprint laboratories in Helsinki, Finland. Variant classifications into five classes were based on American College of Medical Genetics and Genomics (ACMG) guidelines [17] (Table 1). All patients signed a consent form for WES. The study was approved by the King Abdulaziz University Research Ethics Committee.

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