Mowat-Wilson syndrome is a rare genetic condition characterized by intellectual disability, structural anomalies, and dysmorphic features. It is caused by haploinsufficiency of the gene in chromosome 2q22.3. Over 180 distinct mutations in have been reported, including nonsense and missense point mutations, deletions, and large chromosomal rearrangements. We report on a 14-year-old female with a clinical diagnosis of Mowat-Wilson syndrome. Chromosomal microarray identified a novel de novo 69-kb duplication containing exons 1 and 2 of the gene. Sequence analysis identified no other variants in this gene. This is the first report of a partial duplication of the gene resulting in Mowat-Wilson syndrome.
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| http://dx.doi.org/10.1159/000473693 | DOI Listing |
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[Clinical features and genetic analysis of two children with Mowat-Wilson syndrome due to variants of ZEB2 gene].
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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.
- A case study presented a 3-year-old boy diagnosed with MWS who exhibited several eye abnormalities, including nystagmus and strabismus, and underwent comprehensive eye examinations under general anesthesia.
- The examinations showed normal intraocular pressure and responses to light in the eyes, but some differences in visual evoked potentials, highlighting the importance of regular eye check-ups for children with genetic conditions to monitor their vision development.
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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