Chebly Alain, Salem Nabiha, Moussallem Romy, Moukarzel Adib
Center Jacques Loiselet for Medical Genetics and Genomics (CGGM), Faculty of Medicine, Saint Joseph University of Beirut (USJ), Beirut, Lebanon.
Department of Pediatrics, Hotel-Dieu de France Hospital, Beirut, Lebanon.
Heliyon. 2024 Nov 1;10(21):e40057. doi: 10.1016/j.heliyon.2024.e40057. eCollection 2024 Nov 15.
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 () 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 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.
怀特-萨顿综合征（WHSUS）是一种罕见的神经发育性遗传疾病，具有常染色体显性遗传模式。在怀特-萨顿综合征病例中，已报道了锌指结构域（）基因中存在截短突变。在本文中，我们介绍了黎巴嫩首例确诊的怀特-萨顿综合征病例。这名10个月大的婴儿出现生长发育迟缓、慢性腹泻、呕吐和反复上呼吸道感染。进行的分子检测显示该基因存在一种新的无义变异：c.1135C>T p.(Arg379∗)。鉴于该疾病相对较轻的形式，我们的研究结果表明，怀特-萨顿综合征患者可能表现出异质性临床特征。
