| Autor: |
Alain Chebly, Nabiha Salem, Romy Moussallem, Adib Moukarzel |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Heliyon, Vol 10, Iss 21, Pp e40057- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2405-8440 |
| DOI: |
10.1016/j.heliyon.2024.e40057 |
| Popis: |
White-Sutton Syndrome (WHSUS) is a rare neurodevelopmental genetic disorder with an autosomal dominant mode of inheritance. Truncating mutations in pogo transposable element with zinc finger domain (POGZ) gene have been reported in cases of WHSUS. In this article, we present the first diagnosed case of WHSUS in Lebanon. The 10-month-old infant presented with failure to thrive, chronic diarrhea, vomiting and recurrent upper respiratory tract infections. Molecular testing was performed showing a novel nonsense variant in the POGZ gene: c.1135C > T p.(Arg379∗). With a relatively mild form of the disease, our findings suggest that WHSUS patients may present heterogenous clinical features. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
