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

Loai Elsaadany1, Mahmoud El-Said2, Rehab Ali3

  • 1Department of Pediatric, Hamad Medical Corporation, Doha, State of Qatar.

BMC Medical Genetics
|August 7, 2016
PubMed
Abstract

Insights

A mutation in the WW domain containing oxidoreductase (WWOX) gene causes a severe neurological syndrome in children, including intractable epilepsy and intellectual disability. This highlights WWOX

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • The WW domain containing oxidoreductase (WWOX) gene is known for its tumor-suppressive roles.
  • WWOX protein exhibits differential expression in the brain and spinal cord, with its absence linked to seizures and mortality in mice.

Observation:

  • A consanguineous Arab family from Qatar presented with two daughters exhibiting intractable seizures and developmental delay.
  • Whole Exome Sequencing (WES) identified a novel homozygous mutation in the WWOX gene in these affected individuals.

Findings:

  • The identified WWOX gene mutation is associated with a debilitating syndrome.
  • This syndrome is characterized by growth retardation, intractable epilepsy, intellectual disability, and premature death.

Implications:

  • This study underscores the critical role of the human WWOX gene in normal brain development.
  • It establishes a direct link between WWOX gene mutations and epileptic encephalopathy.
  • Whole Exome Sequencing (WES) proves invaluable for diagnosing complex genetic disorders.
Keywords:
Developmental delayEncephalopathySeizureW44XWWOXWhole Exome Sequencing (WES)

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