Case Report
Volume: 6 | Issue: 2 | Published: Jan 08, 2024 | Pages: 133 - 137 | DOI: 10.24911/JBCGenetics/183-1696016763
WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.
Authors:
Moosa Al-Lawati
, Zuha Al-Khaldi
, Akbar Mohamed Chettali
, Mariya Al-Hinai
, Hiba Al-Mazrooey
, Ali Al-Ajmi
, Salma Al-Harasi
, Nadia Al-Hashmi
Article Info
Authors
Zuha Al-Khaldi
Oman Medical Specialty Board, Muscat, Sultanate of Oman
Akbar Mohamed Chettali
Consultant Pediatric Neurologist, Child Health Department, Royal Hospital, Sultanate of Oman
Mariya Al-Hinai
National Genetic Center, Royal Hospital, Muscat, Sultanate of Oman
Hiba Al-Mazrooey
National Genetic Center, Royal Hospital, Muscat, Sultanate of Oman
Ali Al-Ajmi
National Genetic Center, Royal Hospital, Muscat, Sultanate of Oman
Salma Al-Harasi
National Genetic Center, Royal Hospital, Muscat, Sultanate of Oman
Nadia Al-Hashmi
Senior Consultant, Clinical & Biochemical Geneticist, Child Health Department, Royal Hospital, Muscat, Sultanate of Oman.
Publication History
Received: September 30, 2023
Revised: October 31, 2023
Accepted: December 17, 2023
Published: January 08, 2024
Abstract
Background: Autosomal recessive developmental and epileptic encephalopathy type 28 (DEE28) is a rare genetic disorder that affects children in the early months of life. It is proved to be caused by a pathogenic variance in WW domain-containing oxidoreductase (WWOX) gene. Case presentation: Here, we report a 5-year-old male patient with autosomal recessive DEE28. Whole exome sequencing (WES) test was conducted and resulted in a pathogenic result on WWOX gene pathogenic variant. To our knowledge, these are the first cases reported in Oman. Conclusion: For patients with DEE28, it is essential to take the full family history and genetic workup to assist in the diagnosis. In the future, gene therapy – which is currently being investigated - may help those patients to have a good quality of life and improve the prognosis of the disease.
Keywords: WWOX, epileptic encephalopathy, DEE28, WOREE syndrome
