Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report

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dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridGurkan, Hakan/0000-0002-8967-6124
dc.authoridDemir, Selma/0000-0002-0964-5513
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidDemir, Selma/A-1500-2018
dc.contributor.authorDemir, Selma
dc.contributor.authorGurkan, Hakan
dc.contributor.authorOz, Veysel
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorAtli, Emine I.
dc.contributor.authorAtli, Engin
dc.date.accessioned2024-06-12T10:59:10Z
dc.date.available2024-06-12T10:59:10Z
dc.date.issued2021
dc.departmentTrakya Üniversitesien_US
dc.description.abstractWiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant disorder with a variable clinical phenotype including synophrys, hypertelorism, thick eyebrows, long eyelashes, wide nasal bridge, long philtrum, hypertrichosis, growth retardation, and intellectual disability. Cornelia de Lange syndrome (CdLS) is a rare disease characterized by synophrys, long eyelashes, limb abnormalities, generalized hirsutism, growth retardation, and intellectual disability. In both WDSTS and CdLS, the malformations are due to transcriptome disturbance caused by defects in the genes encoding the components of chromatin regulation and transcription process. The overlapping features in these two syndromes may complicate the original diagnosis of a patient. Here, we report on a Wiedemann-Steiner patient found to have a de novo pathogenic KMT2A variation who had been clinically suspected as CdLS. We suggest that targeted next-generation sequencing is a feasible tool for the precise diagnosis of patients who have phenotypically and clinically overlapping features of CdLS and WDSTS.en_US
dc.identifier.doi10.1159/000511971
dc.identifier.endpage51en_US
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.issue1en_US
dc.identifier.pmid33776627en_US
dc.identifier.scopus2-s2.0-85097417816en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage46en_US
dc.identifier.urihttps://doi.org/10.1159/000511971
dc.identifier.urihttps://hdl.handle.net/20.500.14551/20346
dc.identifier.volume12en_US
dc.identifier.wosWOS:000595453000001en_US
dc.identifier.wosqualityQ4en_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/openAccessen_US
dc.subjectDe Novo Mutationen_US
dc.subjectKMT2Aen_US
dc.subjectTargeted Next-Generation Sequencingen_US
dc.subjectWiedemann-Steiner Syndromeen_US
dc.subjectPathogenic Varianten_US
dc.subjectKmt2aen_US
dc.titleWiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Reporten_US
dc.typeArticleen_US

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