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Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome
Molecular Syndromology ( IF 1.1 ) Pub Date : 2020-11-20 , DOI: 10.1159/000511609
Durdugul Ayyildiz Emecen 1 , Esra Isik 1 , Gulen E Utine 2 , Pelin O Simsek-Kiper 2 , Tahir Atik 1 , Ferda Ozkinay 1
Affiliation  

Mowat-Wilson syndrome (MWS) is a rare autosomal dominant syndrome characterized by distinctive facial features, congenital heart defects, Hirschsprung disease, genitourinary anomalies, various structural brain anomalies, and intellectual disability. Pathogenic mutations that result in haploinsufficiency in the ZEB2 gene cause MWS. In this study, we aimed to evaluate the clinical features and molecular analysis results of 4 MWS patients. All patients were examined by an expert clinical geneticist. Dysmorphological abnormalities were recorded. Data including demographic, clinical, and laboratory findings were obtained from hospital records. ZEB2 gene analysis was performed using a Sanger sequencing method. All patients had typical facial features of MWS such as widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes. Four different heterozygous mutations were identified; 2 mutations were frameshift (c.246_247delGGinsC, c.980_980delG), 1 was nonsense (c.2083C#x3e;T), and 1 was splice site (c.808–2A#x3e;G). Two of them (c.246_247delGGinsC, c.980_980delG) have not been previously reported in the literature. By defining 2 novel mutations, this study contributes to the molecular spectrum of MWS, while also providing a further insight for genetic counseling. It also demonstrates the importance of dysmorphological examination in clinical diagnosis.
Mol Syndromol


中文翻译:

四名莫瓦特-威尔逊综合征患者的临床和分子谱

莫瓦特-威尔逊综合征 (MWS) 是一种罕见的常染色体显性遗传综合征,其特征为独特的面部特征、先天性心脏缺陷、先天性巨结肠、泌尿生殖系统异常、各种大脑结构异常和智力障碍。导致ZEB2基因单倍体不足的致病突变会导致 MWS。在本研究中,我们旨在评估 4 名 MWS 患者的临床特征和分子分析结果。所有患者均由临床遗传学专家进行检查。记录了形态异常。包括人口统计、临床和实验室检查结果在内的数据均来自医院记录。使用桑格测序方法进行ZEB2基因分析。所有患者均具有 MWS 的典型面部特征,如眼睛间距较宽、眉毛内侧向外张开、鼻小柱低垂、下巴突出或尖、张嘴表情和耳垂上扬。鉴定出四种不同的杂合突变;2 个突变为移码(c.246_247delGGinsC、c.980_980delG),1 个突变为无义突变(c.2083C#x3e;T),1 个突变为剪接位点(c.808–2A#x3e;G)。其中两个(c.246_247delGGinsC、c.980_980delG)以前未在文献中报道过。通过定义 2 个新突变,这项研究有助于丰富 MWS 的分子谱,同时也为遗传咨询提供了进一步的见解。这也说明了畸形检查在临床诊断中的重要性。
摩尔综合症
更新日期:2020-11-21
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