The Phenotypic Spectrum of Desanto-Shinawi Syndrome: A Comparative Report of the First Reported Case in Turkey

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dc.contributor.authorMail, Cisem
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorEker, Damla
dc.contributor.authorGurkan, Hakan
dc.date.accessioned2024-06-12T10:59:22Z
dc.date.available2024-06-12T10:59:22Z
dc.date.issued2024
dc.departmentTrakya Üniversitesien_US
dc.description.abstractDeSanto-Shinawi syndrome (DESSH, OMIM #616708) is a rare genetic disorder caused by pathogenic variants in the WAC gene. This syndrome is characterized by a wide range of physical and neurological symptoms including dysmorphic features, developmental delay, intellectual disability, and behavioral abnormalities. DESSH was described by DeSanto in 2015, and since then, only a few dozen cases have been reported worldwide. Recent research has focused on identifying the underlying genetic cause of the syndrome as well as exploring potential treatments. In this report, we describe a female case who had dysmorphic features including long palpebral fissures, depressed nasal root, mild bulbous nasal tip, thin upper lip, hypertrichosis, short fingers, and intellectual disability, speech delay, and motor retardation. In addition, she had behavioral abnormalities such as agitation, anxiety, and attention deficit hyperactivity disorder (ADHD). Clinical exome sequencing showed a pathogenic heterozygous nonsense variant in exon 13 of the WAC gene c.1837C>T, p.(Arg613Ter) with de novo inheritance. To the best of our knowledge, this is the first case of DESSH reported from Turkey. We aimed to report this rare syndrome and compare the clinical findings of our case with previously reported cases in the literature.en_US
dc.identifier.doi10.1089/gtmb.2023.0285
dc.identifier.endpage217en_US
dc.identifier.issn1945-0265
dc.identifier.issn1945-0257
dc.identifier.issue5en_US
dc.identifier.pmid38613467en_US
dc.identifier.scopus2-s2.0-85194217396en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage213en_US
dc.identifier.urihttps://doi.org/10.1089/gtmb.2023.0285
dc.identifier.urihttps://hdl.handle.net/20.500.14551/20411
dc.identifier.volume28en_US
dc.identifier.wosWOS:001201866200001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMary Ann Liebert, Incen_US
dc.relation.ispartofGenetic Testing And Molecular Biomarkersen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectDesanto-Shinawi Syndromeen_US
dc.subjectWAC Geneen_US
dc.subjectClinical Exome Sequencingen_US
dc.subjectIntellectual Disabilityen_US
dc.subjectOf-Function Mutationsen_US
dc.subjectWacen_US
dc.titleThe Phenotypic Spectrum of Desanto-Shinawi Syndrome: A Comparative Report of the First Reported Case in Turkeyen_US
dc.typeArticleen_US

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