ZEB2 is a protein-coding gene belonging to a very restricted family of transcription factors. ZEB2 acts mainly as a transcription repressor, is expressed in various tissues and its role is fundamental for the correct development of the nervous system. The best-known clinical picture associated with ZEB2 mutations is Mowat-Wilson syndrome, caused mostly by haploinsufficiency and characterized by possible multi-organ malformations, dysmorphic features, intellectual disability, and epilepsy. In this study we report the generation of IGGi004-A and IGGi005-A, iPSC clones from two patients carrying different heterozygous mutations in ZEB2, which can be used for disease modelling, pathophysiological studies and therapeutics testing.
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[Clinical features and genetic analysis of two children with Mowat-Wilson syndrome due to variants of ZEB2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2024
Ningbo Key Laboratory for the Prevention and Treatment of Embryogenic Diseases, Central Laboratory of Birth Defects Prevention and Control, the Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang 315012, China.
Objective: To explore the clinical features and genetic variants in two children with Mowat-Wilson syndrome (MWS).
Methods: Two children admitted to the Affiliated Women and Children's Hospital of Ningbo University respectively in May and October 2022 were selected as the study subjects. Clinical data of the patients were collected.
Expanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion.
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Department of Medical Genetics, Canakkale Onsekiz Mart University Faculty of Medicine, Canakkale, Türkiye.
Mowat-Wilson syndrome (MWS) is a complex disorder caused by heterozygous ZEB2 gene variations creating haploinsufficiency. The main clinical features are evolving facial dysmorphism, intellectual disability, eye and brain malformations, and various organ anomalies. Our study examines 10 Turkish patients, who had clinical diagnosis, underwent evaluation, clinical investigations, and genetic tests in multiple tertiary centers across Türkiye, and were molecularly diagnosed with MWS.
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Department of Pediatric Ophtalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, Katowice, Poland.
Article Synopsis
- Mowat-Wilson syndrome (MWS) is a rare genetic disorder that causes various congenital anomalies, including facial features and organ issues, with some cases involving eye problems.
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Subtle phenotypes of Mowat-Wilson syndrome in a patient with a novel ZEB2 C-ZF domain variant.
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Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
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