Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome

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dc.contributor.authorAyyildiz Emecen, Durdugul
dc.contributor.authorIsik, Esra
dc.contributor.authorUtine, Gulen E.
dc.contributor.authorSimsek-Kiper, Pelin O.
dc.contributor.authorAtik, Tahir
dc.contributor.authorOzkinay, Ferda
dc.date.accessioned2021-05-03T20:36:50Z
dc.date.available2021-05-03T20:36:50Z
dc.date.issued2020
dc.departmentEge Üniversitesien_US
dc.description.abstractMowat-Wilson syndrome (MWS) is a rare autosomal dominant syndrome characterized by distinctive facial features, congenital heart defects, Hirschsprung disease, genitourinary anomalies, various structural brain anomalies, and intellectual disability. Pathogenic mutations that result in haploinsufficiency in the ZEB2 gene cause MWS. in this study, we aimed to evaluate the clinical features and molecular analysis results of 4 MWS patients. All patients were examined by an expert clinical geneticist. Dysmorphological abnormalities were recorded. Data including demographic, clinical, and laboratory findings were obtained from hospital records. ZEB2 gene analysis was performed using a Sanger sequencing method. All patients had typical facial features of MWS such as widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes. Four different heterozygous mutations were identified; 2 mutations were frameshift (c.246_247delGGinsC, c.980_980delG), 1 was nonsense (c.2083C>T), and 1 was splice site (c.808-2A>G). Two of them (c.246_247delGGinsC, c.980_980delG) have not been previously reported in the literature. By defining 2 novel mutations, this study contributes to the molecular spectrum of MWS, while also providing a further insight for genetic counseling. It also demonstrates the importance of dysmorphological examination in clinical diagnosis.en_US
dc.identifier.doi10.1159/000511609en_US
dc.identifier.endpage301en_US
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.issue5-6en_US
dc.identifier.scopus2-s2.0-85097374313en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage296en_US
dc.identifier.urihttps://doi.org/10.1159/000511609
dc.identifier.urihttps://hdl.handle.net/11454/70244
dc.identifier.volume11en_US
dc.identifier.wosWOS:000592518200001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofMolecular Syndromologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectFacial dysmorphismen_US
dc.subjectGenetic syndromeen_US
dc.subjectLanguage impairmenten_US
dc.subjectMowat-Wilson syndromeen_US
dc.subjectZEB2en_US
dc.titleClinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndromeen_US
dc.typeArticleen_US

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