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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dc.contributor.authorKablan, Ahmet
dc.contributor.authorAru, Esma Erturkmen
dc.contributor.authorAtar, Suleyman
dc.contributor.authorGumus, Aydeniz Aydin
dc.contributor.authorIli, Ezgi Gokpinar
dc.contributor.authorKayhan, Gulsum
dc.contributor.authorTekin, Koray
dc.date.accessioned2025-01-27T20:58:22Z
dc.date.available2025-01-27T20:58:22Z
dc.date.issued2024
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractMowat-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 T & uuml;rkiye, and were molecularly diagnosed with MWS. Molecular analysis with sequencing techniques alongside array testing unveiled disease-causing variations in addition to novel variants, including two siblings with recurrent multiexon deletion. Clinical presentations varied, featuring neurodevelopmental delay and characteristic facial traits and organ malformations across all cases, alongside less frequently reported manifestations such as laryngomalacia or rocker bottom feet in addition to new features such as macroorchidism and osteoporosis. Our findings expand the genetic and phenotypical spectrum of MWS, and hint at potential implications of gonadal mosaicism. While establishing clear genotype-phenotype correlations poses challenges, comprehensive genetic testing remains pivotal for precise diagnosis and management. The study highlights the complexity of MWS genetics, with potential implications of gonadal mosaicism on recurrence. Further research is needed to elucidate mechanisms driving phenotypic variability, potential hotspots, and mechanisms for recurrent variations. We report on the largest cohort with MWS from T & uuml;rkiye.
dc.identifier.doi10.1002/ajmg.a.63922
dc.identifier.issn1552-4825
dc.identifier.issn1552-4833
dc.identifier.pmid39526569
dc.identifier.scopus2-s2.0-85208785084
dc.identifier.scopusqualityQ3
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.63922
dc.identifier.urihttps://hdl.handle.net/20.500.12428/26686
dc.identifier.wosWOS:001354178300001
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20250125
dc.subjectintrafamilial recurrence
dc.subjectMowat-Wilson syndrome
dc.subjectnovel variant
dc.subjectTurkish cohort
dc.titleExpanding 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
dc.typeArticle

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