A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient

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dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridZHURI, DRENUSHE/0000-0002-8370-1990
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.contributor.authorZhuri, Drenushe
dc.contributor.authorDusenkalkan, Fulya
dc.contributor.authorTunca Alparslan, Guzin
dc.contributor.authorGurkan, Hakan
dc.date.accessioned2024-06-12T11:09:06Z
dc.date.available2024-06-12T11:09:06Z
dc.date.issued2023
dc.departmentTrakya Üniversitesien_US
dc.description.abstractIntroduction: Okur-Chung neurodevelopmental syndrome (OCNDS; #617062) has been associated with heterozygous mutations in the CSNK2A1 gene (*115440) mapped on the chromosome's 20p13 region. Case Presentation: The analysis was performed on a 2-year-old patient who was admitted to our genetic diseases evaluation center by his family with a complaint of hypotonia. We detected a heterozygous NM_177559.3 (CSNK2A1):c.1139_1140dupGG (p.Met381GlyfsTer32) variant in the CSNK2A1 gene from a whole-exome sequence analysis. Conclusion: The variant that we detected has not been reported in open-access databases to date, so it was evaluated as a novel likely pathogenic variant according to the ACMG-2015 criteria. No variant was detected upon segregation analysis of the patient's parents; therefore, the related variant was evaluated as de novo. In this study, we offer the first report of a pathogenic frameshift variant in the CSNK2A1 gene that has a relationship with OCNDS.en_US
dc.identifier.doi10.1159/000530585
dc.identifier.endpage50en_US
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.issue1en_US
dc.identifier.pmid38357263en_US
dc.identifier.scopus2-s2.0-85185781863en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage43en_US
dc.identifier.urihttps://doi.org/10.1159/000530585
dc.identifier.urihttps://hdl.handle.net/20.500.14551/22687
dc.identifier.volume15en_US
dc.identifier.wosWOS:001008104400001en_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.subjectNeurodevelopmental Syndromeen_US
dc.subjectHypotoniaen_US
dc.subjectNovelen_US
dc.subjectDe Novo Varianten_US
dc.subjectWhole-Exome Sequencingen_US
dc.subjectProtein-Kinase Ck2en_US
dc.subjectAbnormalitiesen_US
dc.subjectPredictionen_US
dc.titleA Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patienten_US
dc.typeArticleen_US

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