3例中国莫瓦特-威尔逊综合征患者的临床特征及ZEB2基因突变分析。

IF 1.8 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pharmacogenomics & Personalized Medicine Pub Date : 2023-01-01 DOI:10.2147/PGPM.S414161
Xiao Han, Qianjuan Zhang, Chengcheng Wang, Bingjuan Han
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摘要

目的:mowa - wilson综合征(MWS)是一种常染色体显性遗传病,由ZEB2基因的致病性变异引起。主要临床表现为特殊的面部特征、先天性巨结肠病(HSCR)、整体发育迟缓等先天性畸形。在此,我们总结了3例中国MWS患者的临床特点和基因突变分析。患者与方法:监测患者的临床特点,随访治疗效果。从外周血中提取DNA并进行测序分析。然后进行全外显子组测序。结果:在3例患者中发现3个新的ZEB2基因突变(c.1147_1150dupGAAC, p.Q384Rfs*7, c.1137_1146del TAGTATGTCT, p.S380Nfs *13和c.2718delT, p.A907Lfs*23)。他们都有特殊的面部特征、智力障碍、发育迟缓、小头畸形、大脑结构异常和其他症状。经长期正规康复治疗后,患者各功能区发育商略有改善。结论:我们的研究扩大了ZEB2的突变谱,丰富了我们对MWS临床特征的认识。这也说明长期规范化治疗对患者的预后有重要意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Clinical Characteristics and Novel ZEB2 Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome.

Purpose: Mowat-Wilson syndrome (MWS) is an autosomal dominant disease caused by a pathogenic variant of the ZEB2 gene. The main clinical manifestations include special facial features, Hirschsprung disease (HSCR), global developmental delay and other congenital malformations. Here, we summarize the clinical characteristics and genetic mutation analysis of three Chinese patients with MWS.

Patients and methods: The clinical characteristics of the patients were monitored and the treatment effect was followed up. DNA was extracted from peripheral blood and analyzed by sequencing. Whole exome sequencing was then performed.

Results: Three novel ZEB2 gene mutations were identified in 3 patients (c.1147_1150dupGAAC, p.Q384Rfs*7, c.1137_1146del TAGTATGTCT, p.S380Nfs *13 and c.2718delT, p.A907Lfs*23). They all had special facial features, intellectual disability, developmental delay, microcephaly, structural brain abnormalities and other symptoms. After long-term regular rehabilitation treatment, the development quotient of each functional area of the patient was slightly improved.

Conclusion: Our study expanded the mutation spectrum of ZEB2 and enriched our understanding of the clinical features of MWS. It also shows that long-term standardized treatment is of great significance for the prognosis of patients.

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来源期刊
Pharmacogenomics & Personalized Medicine
Pharmacogenomics & Personalized Medicine Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
3.30
自引率
5.30%
发文量
110
审稿时长
16 weeks
期刊介绍: Pharmacogenomics and Personalized Medicine is an international, peer-reviewed, open-access journal characterizing the influence of genotype on pharmacology leading to the development of personalized treatment programs and individualized drug selection for improved safety, efficacy and sustainability. In particular, emphasis will be given to: Genomic and proteomic profiling Genetics and drug metabolism Targeted drug identification and discovery Optimizing drug selection & dosage based on patient''s genetic profile Drug related morbidity & mortality intervention Advanced disease screening and targeted therapeutic intervention Genetic based vaccine development Patient satisfaction and preference Health economic evaluations Practical and organizational issues in the development and implementation of personalized medicine programs.
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