Mowat-Wilson syndrome (MWS) is a rare autosomal dominant syndrome characterized by dysmorphic features, mental retardation, and congenital heart disease (CHD). MWS results from microdeletions of chromosome 2q23 or de novo SNVs involving the ZEB2 gene. Here, we report on an Egyptian MWS patient diagnosed by chromosomal microarray (CMA). A 1-year-old male child was referred to the CHD clinic, National Research Centre, presenting with dysmorphic features and CHD. The patient was referred to the human cytogenetics department for cytogenetic analysis and for screening of subtelomere rearrangements and microdeletion loci, using MLPA, and all revealed normal results. CMA revealed an interstitial 2.27-Mb microdeletion in chromosome 2q, involving the entire ZEB2 gene and other genes. This study emphasizes the significance of CMA in the detection of microdeletions/microduplications and as a screening tool in cases presenting with CHD and extracardiac manifestations. MWS should be suspected in patients presenting with the characteristic facial dysmorphism, developmental delay, seizures, Hirschsprung disease, and congenital heart anomalies, especially those involving the pulmonary arteries or pulmonary valves. It is recommended to include the ZEB2 locus in the MLPA microdeletions probes.
Mol Syndromol

中文翻译：

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Mowat-Wilson 综合征病例中涉及整个 ZEB2 基因的 2q22.2q22.3 间质缺失

Mowat-Wilson 综合征 (MWS) 是一种罕见的常染色体显性遗传综合征，其特征是畸形特征、智力低下和先天性心脏病 (CHD)。MWS 是由染色体 2q23 或涉及ZEB2基因的de novo SNV 的微缺失引起的。在这里，我们报告了通过染色体微阵列 (CMA) 诊断出的埃及 MWS 患者。一名 1 岁男童被转诊至国家研究中心 CHD 诊所，表现为畸形特征和 CHD。该患者被转诊到人类细胞遗传学部门进行细胞遗传学分析，并使用 MLPA 筛查亚端粒重排和微缺失位点，结果均显示正常。CMA 揭示了染色体 2q 中的间质 2.27-Mb 微缺失，涉及整个ZEB2基因和其他基因。本研究强调了 CMA 在检测微缺失/微重复以及作为 CHD 和心外表现病例的筛查工具中的重要性。出现特征性面部畸形、发育迟缓、癫痫、先天性巨结肠和先天性心脏异常的患者，尤其是涉及肺动脉或肺动脉瓣的患者，应怀疑 MWS。建议在 MLPA 微缺失探针中包含ZEB2基因座。
摩尔综合征