Mowat-Wilson syndrome (MWS) is a syndromic form of Hirschsprung disease that is characterized by variable degrees of intellectual disability, characteristic facial dysmorphism, and a diverse set of other congenital malformations due to haploinsufficiency of . A variety of brain malformations have been described in neuroimaging studies of MWS patients, and the role of in the brain has been studied in a multitude of genetically engineered mouse models that are now available. However, a paucity of autopsy information limits our ability to correlate data from neuroimaging studies and animal models with actual MWS patient tissues. Here, we report the autopsy neuropathology of a 19-year-old male patient with MWS. Autopsy neuropathology findings correlated well with the reported MWS neuroimaging data and are in keeping with data from genetically engineered MWS mouse models. This autopsy enhances our understanding of function in human brain development and demonstrates the reliability of MWS murine models.
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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.
View Article and Find Full Text PDFDeletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.
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Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
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View Article and Find Full Text PDFMowat-Wilson syndrome: Case report.
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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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