POGZ 的新型无义变体扩大了怀特-萨顿综合征的范围：病例报告。

IF 3.4 3区综合性期刊 Q1 MULTIDISCIPLINARY SCIENCES

Heliyon Pub Date : 2024-11-01 eCollection Date: 2024-11-15 DOI:10.1016/j.heliyon.2024.e40057

Alain Chebly, Nabiha Salem, Romy Moussallem, Adib Moukarzel

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引用次数: 0

摘要

怀特-萨顿综合征（White-Sutton Syndrome，WHSUS）是一种罕见的神经发育遗传性疾病，为常染色体显性遗传。据报道，在WHSUS病例中，具有锌指结构域的pogo转座元件（POGZ）基因发生了截断突变。本文介绍了黎巴嫩首例确诊的 WHSUS 病例。这名 10 个月大的婴儿表现为发育不良、慢性腹泻、呕吐和反复上呼吸道感染。分子检测显示，POGZ 基因存在一个新的无义变异：c.1135C > T p.（Arg379∗）。我们的研究结果表明，WHSUS 患者的病情相对较轻，可能表现出不同的临床特征。

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A novel nonsense variant in POGZ expanding the spectrum of White-Sutton syndrome: A case report.

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.

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来源期刊

Heliyon MULTIDISCIPLINARY SCIENCES-

CiteScore

4.50

自引率

2.50%

发文量

2793

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