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

Abstract

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.

Keywords:

• Mowat-Wilson syndrome
• ZEB2
• gene mutation
• rehabilitation treatment
• long-term follow-up

Data Sharing Statement

All data generated or analyzed in this study are included in this published article.

Ethical Approval

All three patients were from The Second Children & Women’s Healthcare of Jinan City. All tests were performed as routine clinical investigations in accordance with the ethical principles of the Declaration of Helsinki. All patients’ guardians provided written informed consent for the publication of images as well as personal and medical information for data analysis and publication. This study was approved by the Medical Ethics Committee of The Second Children & Women’s Healthcare of Jinan City. It agreed to publish.

Acknowledgments

We would like to express our sincere gratitude to our patients and their families for their cooperation.

Disclosure

The authors report no conflicts of interest in this work.

Additional information

Funding

There is no funding to report.