| Autor: |
Al-Lawati, Moosa, Al-Khaldi, Zuha, Chettali, Akbar Mohamed, Al-Hinai, Mariya, Al-Mazrooey, Hiba, Al-Ajmi, Ali, Al-Harasi, Salma, Al-Hashmi, Nadia |
| Předmět: |
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| Zdroj: |
Journal of Biochemical & Clinical Genetics; 2023, Vol. 6 Issue 2, p133-137, 5p |
| Abstrakt: |
Background: 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 DEE28. The 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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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