{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T06:04:29Z","timestamp":1790748269127,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,3,5]],"date-time":"2024-03-05T00:00:00Z","timestamp":1709596800000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82201573"],"award-info":[{"award-number":["82201573"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Okur\u2010Chung neurodevelopmental syndrome (OCNDS) is a rare autosomal dominant disorder caused by pathogenic variants in <jats:italic>CSNK2A1<\/jats:italic>. It is characterized by intellectual disability, developmental delay, and multisystemic abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed the whole\u2010exome sequencing for a patient in a Chinese family. The co\u2010segregation study using the Sanger sequencing method was performed among family members. Reverse transcription and quantitative real\u2010time polymerase chain reaction were carried out using total RNA from blood samples of the proband and wild\u2010type control subjects. A review of patients with OCNDS harboring <jats:italic>CSNK2A1<\/jats:italic> pathogenic variants was conducted through a comprehensive search of the PubMed database.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a novel <jats:italic>CSNK2A1<\/jats:italic> frameshift variant p.Tyr323Leufs*16 in a Chinese family. The proband, a 31\u2010year\u2010old female, presented with abnormal eating habits, recurrent seizures, language impairment, and intellectual disability. Her mother exhibited postnatal hernias, splenomegaly, and a predisposition to infections, but showed no significant developmental impairments or intellectual disability. Genetic studies revealed the presence of this variant in <jats:italic>CSNK2A1<\/jats:italic> in both the proband and her mother. Transcription analysis revealed this variant may lead to nonsense\u2010mediated mRNA decay, suggesting haploinsufficiency as a potential disease mechanism. We reviewed 47 previously reported OCNDS cases and discovered that individuals carrying <jats:italic>CSNK2A1<\/jats:italic> null variants may exhibit a diminished frequency of symptoms linked to language deficits, dysmorphic facial features, or intellectual disability, consequently presenting an overall milder phenotype when compared to those with missense variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report a novel frameshift variant, p.Tyr323Leufs*16, in an OCNDS family with a generally mild phenotype. This study may broaden the spectrum of clinical presentations associated with OCNDS and contribute novel insights into the genotype\u2013phenotype correlation of this condition.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2398","type":"journal-article","created":{"date-parts":[[2024,3,6]],"date-time":"2024-03-06T07:29:32Z","timestamp":1709710172000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["<scp>Okur\u2010Chung<\/scp> neurodevelopmental syndrome: Implications for phenotype and genotype expansion"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1185-5464","authenticated-orcid":false,"given":"Haitian","family":"Nan","sequence":"first","affiliation":[{"name":"Department of Neurology, Xuanwu Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Chu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xuanwu Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xuanwu Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deming","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xuanwu Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yihao","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xuanwu Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liyong","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xuanwu Hospital Capital Medical University  Beijing China"},{"name":"National Clinical Research Center for Geriatric Diseases  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,3,5]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2018.11"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200005)47:5<670::AID-ANA20>3.0.CO;2-F"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14408"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13196"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010018\u20100434\u2010y"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010021\u201002280\u20105"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.0578\u20101310.2019.05.010"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000522353"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61405"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000517977"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010018\u20100559\u2010z"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/20.19.5320"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010016\u20101661\u2010y"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38610"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2017.73"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000456"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.1003\u20109406.2020.06.011"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/03000605211017063"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881\u2010020\u201001096\u2010w"}],"container-title":["Molecular Genetics &amp; 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