title: W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report.
abstract: BACKGROUND
  WW domain containing oxidoreductase (WWOX) gene was cloned in 2000; alteration has been seen in many cancer cells. It acts as a tumor suppresser by blocking cell growth and causing apoptosis. WWOX protein showed different expression of mice brain and spinal cord, for which deletion causes seizure and early death.
  
  
  METHODS
  Clinical and molecular characteristics of a consanguineous family show a homozygous mutation of WWOX gene at specific bases, causing a debilitating syndrome characterized by growth retardation, intractable epilepsy, intellectual disability, and early death. Using Whole Exome Sequencing (WES), a novel homozygous mutation in the WWOX gene is identified in a consanguineous Arab family from Qatar with two daughters who presented with intractable seizure and developmental delay.
  
  
  CONCLUSIONS
  The study presents the importance of human WWOX gene for brain development and the association between gene mutation and epileptic encephalopathy. It also highlights the power of WES particularly in clinically challenging cases.
authors: Department of Pediatric, Hamad Medical Corporation, Doha, State of Qatar.
authors: Loai
authors: L
authors: Elsaadany
authors: Department of Pediatric, Pediatric Neurology, Hamad Medical Corporation, Doha, State of Qatar.
authors: Mahmoud
authors: M
authors: El-Said
authors: Department of Pediatric, Clinical and Metabolic Genetic, Hamad Medical Corporation, Doha, State of Qatar.
authors: Rehab
authors: R
authors: Ali
authors: Department of Neuro-Radiology, Hamad Medical Corporation, Doha, State of Qatar.
authors: Hussein
authors: H
authors: Kamel
authors: Department of Pediatric, Clinical and Metabolic Genetic, Hamad Medical Corporation, Doha, State of Qatar. tawben11@hotmail.com.|Department of Pediatric, Clinical Genetics, Weill-Cornell Medical College-Qatar, Clinical and Metabolic Genetic, Hamad Medical Corporation, PO Box 3050, Doha, State of Qatar. tawben11@hotmail.com.
authors: Tawfeg
authors: T
authors: Ben-Omran
mesh_terms: D018912:Arabs / Q000235:genetics; D002648:Child; D002658:Developmental Disabilities / Q000235:genetics*; D059472:Exome; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics*; D010375:Pedigree; D012640:Seizures / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D000074584:WW Domain-Containing Oxidoreductase
chemical_list: D025521:Tumor Suppressor Proteins; D010088:Oxidoreductases; D000074584:WW Domain-Containing Oxidoreductase; C486071:WWOX protein, human
keywords: Developmental delay; Encephalopathy; Seizure; W44X; WWOX; Whole Exome Sequencing (WES)