Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects. Since the first delineation by Mowat et al. [Mowat et al. (1998); J Med Genet 35:617-623], approximately 179 patients with ZEB2 mutations, deletions or cytogenetic abnormalities have been reported primarily from Europe, Australia and the United States. Genetic defects include chromosome 2q21-q23 microdeletions (or different chromosome rearrangements) in few patients, and ZEB2 mutations in most. We report on clinical and genetic data from 19 Italian patients, diagnosed within the last 5 years, including six previously published, and compare them with patients already reported. The main purpose of this review is to underline a highly consistent phenotype and to highlight the phenotypic evolution occurring with age, particularly of the facial characteristics. The prevalence of MWS is likely to be underestimated. Knowledge of the phenotypic spectrum of MWS and of its changing phenotype with age can improve the detection rate of this condition.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1002/ajmg.a.32693 | DOI Listing |
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.
Am J Med Genet A
November 2024
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 PDFAm J Med Genet A
January 2025
Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy. Deletions affecting the 5' untranslated region (UTR) of CDKL5, which involve the noncoding exon 1 and/or alternatively spliced first exons (exons 1a-e), are uncommonly reported. We describe genetic and phenotypic characteristics for 15 individuals with CDKL5 partial gene deletions affecting the 5' UTR.
View Article and Find Full Text PDFMedicine (Baltimore)
July 2024
Department of Pediatric Ophtalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, Katowice, Poland.
Am J Med Genet A
December 2024
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!