{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T11:47:37Z","timestamp":1788868057796,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,5,6]],"date-time":"2024-05-06T00:00:00Z","timestamp":1714953600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The autosomal dominant Okur\u2013Chung neurodevelopmental syndrome (OCNDS: OMIM #617062) is a rare neurodevelopmental disorder first described in 2016. Features include developmental delay (DD), intellectual disability (ID), behavioral problems, hypotonia, language deficits, congenital heart abnormalities, and non\u2010specific dysmorphic facial features. OCNDS is caused by heterozygous pathogenic variants in <jats:italic>CSNK2A1<\/jats:italic> (OMIM *115440; NM_177559.3). To date, 160 patients have been diagnosed worldwide. The number will likely increase due to the growing use of exome sequencing (ES) and genome sequencing (GS). Here, we describe a novel OCNDS patient carrying a <jats:italic>CSNK2A1<\/jats:italic> variant (NM_177559.3:c.140G&gt;A; NP_808227.1:p.Arg47Gln). Phenotypically, he presented with DD, ID, generalized hypotonia, speech delay, short stature, microcephaly, and dysmorphic features such as low\u2010set ears, hypertelorism, thin upper lip, and a round face. The patient showed several signs not yet described that may extend the phenotypic spectrum of OCNDS. These include prenatal bilateral clubfeet, exotropia, and peg lateral incisors. However, unlike the majority of descriptions, he did not present sleep disturbance, seizures or gait difficulties. A literature review shows phenotypic heterogeneity for OCNDS, whether these patients have the same variant or not. This case report is an opportunity to refine the phenotype of this syndrome and raise the question of the genotype\u2013phenotype correlation.<\/jats:p>","DOI":"10.1002\/ajmg.a.63642","type":"journal-article","created":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T04:54:47Z","timestamp":1715057687000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Patient with a heterozygous pathogenic variant in <scp><i>CSNK2A1<\/i><\/scp> gene: A new case to update the <scp>Okur\u2013Chung<\/scp> neurodevelopmental syndrome"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-8769-7892","authenticated-orcid":false,"given":"Albin","family":"Blanc","sequence":"first","affiliation":[{"name":"Service de g\u00e9n\u00e9tique clinique CHRU de Nancy  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6799-0438","authenticated-orcid":false,"given":"C\u00e9line","family":"Bonnet","sequence":"additional","affiliation":[{"name":"Laboratoire de g\u00e9n\u00e9tique m\u00e9dicale CHRU Nancy  Nancy France"},{"name":"Universit\u00e9 de Lorraine, INSERM UMR_S1256, NGERE  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Wandzel","sequence":"additional","affiliation":[{"name":"Laboratoire de g\u00e9n\u00e9tique m\u00e9dicale CHRU Nancy  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Roth","sequence":"additional","affiliation":[{"name":"Laboratoire de g\u00e9n\u00e9tique m\u00e9dicale CHRU Nancy  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yannis","family":"Duffourd","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Fonctionnelle Innovation en Diagnostic g\u00e9nomique des maladies rares CHU Dijon Bourgogne  Dijon France"},{"name":"Universit\u00e9 de Bourgogne, INSERM UMR_1231 GAD  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Safraou","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Fonctionnelle Innovation en Diagnostic g\u00e9nomique des maladies rares CHU Dijon Bourgogne  Dijon France"},{"name":"Universit\u00e9 de Bourgogne, INSERM UMR_1231 GAD  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Leheup","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Lorraine, INSERM UMR_S1256, NGERE  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Muller","sequence":"additional","affiliation":[{"name":"Service de Chirurgie orthop\u00e9dique infantile CHRU Nancy  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"D Colne","sequence":"additional","affiliation":[{"name":"Service d'Ophtalmologie CHRU Nancy  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Feillet","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Lorraine, INSERM UMR_S1256, NGERE  Nancy France"},{"name":"Centre de R\u00e9f\u00e9rence des maladies m\u00e9taboliques CHRU Nancy  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Schmitt","sequence":"additional","affiliation":[{"name":"Service de Radiologie CHRU Nancy  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matheus","family":"Castro","sequence":"additional","affiliation":[{"name":"Mendelics Genomic Analysis  S\u00e3o Paulo Brazil"},{"name":"Medical Genetics Unit Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo HCFMUSP  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jullian","family":"Savatt","sequence":"additional","affiliation":[{"name":"Autism &amp; Developmental Medicine Institute  Danville Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriano","family":"Burcheri","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Biopathologie \u2010 Anatomie et Cytologie Pathologiques CHRU de Nancy  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Nemos","sequence":"additional","affiliation":[{"name":"Laboratoire de f\u0153topathologie et de placentologie CHRU Nancy  Nancy France"},{"name":"D\u00e9partement d'histologie, embryologie et cytog\u00e9n\u00e9tique de la facult\u00e9 de m\u00e9decine Universit\u00e9 de Lorraine  Nancy France"},{"name":"D\u00e9partement de G\u00e9nie Biologique Sant\u00e9 de l'IUT Nancy\u2010Brabois Universit\u00e9 de Lorraine  Nancy France"},{"name":"Universit\u00e9 de Lorraine Biofonctionnalit\u00e9s et Risques Neurotoxiques (Calbinotox)  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Philippe","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Fonctionnelle Innovation en Diagnostic g\u00e9nomique des maladies rares CHU Dijon Bourgogne  Dijon France"},{"name":"Universit\u00e9 de Bourgogne, INSERM UMR_1231 GAD  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"La\u00ebtitia","family":"Lambert","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique clinique CHRU de Nancy  Nancy France"},{"name":"Universit\u00e9 de Lorraine, INSERM UMR_S1256, NGERE  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2018.11"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14408"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13196"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0434-y"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.0578-1310.2019.05.010"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000522353"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61405"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0559-z"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/20.19.5320"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1661-y"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38610"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13848"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2017.73"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.1003-9406.2020.06.011"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1177\/03000605211017063"},{"issue":"1","key":"e_1_2_7_17_1","first-page":"31","article-title":"Okur\u2010Chung neurodevelopmental syndrome: A case report in one Chinese neonate and review of literature","volume":"28","author":"Zhao Q. 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