Zhuri, DrenusheDusenkalkan, FulyaTunca Alparslan, GuzinGurkan, Hakan2024-06-122024-06-1220231661-87691661-8777https://doi.org/10.1159/000530585https://hdl.handle.net/20.500.14551/22687Introduction: 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.en10.1159/000530585info:eu-repo/semantics/closedAccessNeurodevelopmental SyndromeHypotoniaNovelDe Novo VariantWhole-Exome SequencingProtein-Kinase Ck2AbnormalitiesPredictionArticle1514350N/AWOS:0010081044000012-s2.0-8518578186338357263Q4