W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report

BMC Medical Genetics

Case Report

Hussein Kamel¹  Rehab Ali²  Tawfeg Ben-Omran³  Loai Elsaadany⁴  Mahmoud El-Said⁵ 

[1] Department of Neuro-Radiology, Hamad Medical Corporation, Doha, State of Qatar;Department of Pediatric, Clinical and Metabolic Genetic, Hamad Medical Corporation, Doha, State of Qatar;Department of Pediatric, Clinical and Metabolic Genetic, Hamad Medical Corporation, Doha, State of Qatar;Department of Pediatric, Clinical Genetics, Weill-Cornell Medical College-Qatar, Clinical and Metabolic Genetic, Hamad Medical Corporation, PO Box 3050, Doha, State of Qatar;Department of Pediatric, Hamad Medical Corporation, Doha, State of Qatar;Department of Pediatric, Pediatric Neurology, Hamad Medical Corporation, Doha, State of Qatar;

关键词: WWOX;    W44X;    Seizure;    Encephalopathy;    Developmental delay;    Whole Exome Sequencing (WES);   

DOI  :  10.1186/s12881-016-0317-z

 received in 2015-12-16, accepted in 2016-07-28,  发布年份 2016

来源: Springer

【 摘 要 】

BackgroundWW 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.Case presentationClinical 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.ConclusionThe 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.

【 授权许可】

CC BY   
© The Author(s). 2016