{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T06:04:22Z","timestamp":1790748262978,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,2,13]],"date-time":"2018-02-13T00:00:00Z","timestamp":1518480000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003921","name":"Department of Health, Australian Government","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003921","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:p>Okur\u2010Chung syndrome is a neurodevelopmental condition attributed to germline <jats:italic>CSNK2A1<\/jats:italic> pathogenic missense variants. We present 8 unreported subjects with the above syndrome, who have recognizable dysmorphism, varying degrees of developmental delay and multisystem involvement. Together with 6 previously reported cases, we present a case series of 7 female and 7 male subjects, highlighting the recognizable facial features of the syndrome (microcephaly, hypertelorism, epicanthic fold, ptosis, arched eyebrows, low set ears, ear fold abnormality, broad nasal bridge and round face) as well as frequently occurring clinical features including neurodevelopmental delay (93%), gastrointestinal (57%), musculoskeletal (57%) and immunological (43%) abnormalities. The variants reported in this study are evolutionary conserved and absent in the normal population. We observed that the <jats:italic>CSNK2A1<\/jats:italic> gene is relatively intolerant to missense genetic changes, and most variants are within the protein kinase domain. All except 1 variant reported in this cohort are spatially located on the binding pocket of the holoenzyme. We further provide key recommendations on the management of Okur\u2010Chung syndrome. To conclude, this is the second case series on Okur\u2010Chung syndrome, and an in\u2010depth review of the phenotypic features and genomic findings of the condition with suggestions on clinical management.<\/jats:p>","DOI":"10.1111\/cge.13196","type":"journal-article","created":{"date-parts":[[2017,12,14]],"date-time":"2017-12-14T15:26:43Z","timestamp":1513265203000},"page":"880-890","source":"Crossref","is-referenced-by-count":44,"title":["Okur\u2010Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion"],"prefix":"10.1111","volume":"93","author":[{"given":"A.T.G.","family":"Chiu","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital University of Hong Kong  Hong Kong Hong Kong"},{"name":"Department of Paediatrics Duchess of Kent Children\u2019s Hospital  Hong Kong Hong 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