{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T07:06:21Z","timestamp":1775804781065,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T00:00:00Z","timestamp":1732665600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T00:00:00Z","timestamp":1732665600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001322","name":"South African Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Shprintzen\u2010Goldberg\u2010syndrome (SGS) is caused by pathogenic exon 1 variants of\n                    <jats:italic>SKI<\/jats:italic>\n                    . Symptoms include dysmorphic features, skeletal and cardiovascular comorbidities, and cognitive and developmental impairments. We delineated the neurodevelopmental and behavioral features of SGS, as they are not well\u2010documented. We collected physician\u2010reported data of people with molecularly confirmed SGS through an international collaboration. We identified and deep\u2010phenotyped the neurodevelopmental and behavioral features in four patients. Within our cohort, all exhibited developmental delays in motor skills and\/or speech, with the average age of first words at 2\u2009years and 6\u2009months and independent walking at 3\u2009years and 5\u2009months. All four had learning disabilities and difficulties regulating emotions and behavior. Intellectual disability, ranging from borderline to moderate, was present in all four participants. Moreover, we reviewed the literature and identified 52 additional people with SGS, and summarized the features across both datasets. Mean age was 23\u2009years (9\u201348\u2009years). When combining our cohort and reported cases, we found that 80% (45\/56) had developmental and\/or cognitive impairment, with the remainder having normal intelligence. Our study elucidates the developmental, cognitive, and behavioral features in participants with SGS and contributes to a better understanding of this rare condition.\n                  <\/jats:p>","DOI":"10.1111\/cge.14646","type":"journal-article","created":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T03:28:43Z","timestamp":1732678123000},"page":"328-334","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Exploring the Cognitive and Behavioral Aspects of Shprintzen\u2010Goldberg Syndrome; a Novel Cohort and Literature Review"],"prefix":"10.1111","volume":"107","author":[{"given":"Emilie","family":"Sj\u00f8str\u00f8m","sequence":"first","affiliation":[{"name":"Department of Pediatrics Danish Epilepsy Center  Dianalund Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0526-465X","authenticated-orcid":false,"given":"Ange\u2010Line","family":"Bruel","sequence":"additional","affiliation":[{"name":"INSERM, Genetics of Developmental Anomalies Universit\u00e9 de Bourgogne  Dijon France"},{"name":"Laboratoire de G\u00e9nomique m\u00e9dicale\u2014Centre NEOMICS CHU Dijon Bourgogne  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7098-6520","authenticated-orcid":false,"given":"Christophe","family":"Philippe","sequence":"additional","affiliation":[{"name":"INSERM, Genetics of Developmental Anomalies Universit\u00e9 de Bourgogne  Dijon France"},{"name":"Laboratoire de G\u00e9nomique m\u00e9dicale\u2014Centre NEOMICS CHU Dijon Bourgogne  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8398-7063","authenticated-orcid":false,"given":"Julian","family":"Delanne","sequence":"additional","affiliation":[{"name":"INSERM, Genetics of Developmental Anomalies Universit\u00e9 de Bourgogne  Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence \"Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Inter\u2010r\u00e9gion Est\", FHU TRANSLAD, CHU Dijon Bourgogne  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"INSERM, Genetics of Developmental Anomalies Universit\u00e9 de Bourgogne  Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence \"Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Inter\u2010r\u00e9gion Est\", FHU TRANSLAD, CHU Dijon Bourgogne  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonie A.","family":"Menke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Amsterdam UMC Location University of Amsterdam, Emma Children's Hospital  Amsterdam The Netherlands"},{"name":"Department of Pediatrics Amsterdam Reproduction &amp; Development  Amsterdam The Netherlands"},{"name":"Cellular &amp; Molecular Mechanisms Amsterdam Neuroscience  Amsterdam The Netherlands"},{"name":"Department of Pediatrics Emma Center for Personalized Medicine  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. Y. Billie","family":"Au","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Alberta Children's Hospital, Hospital Research Institute, Cumming School of Medicine University of Calgary  Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica Jane","family":"Cormick","sequence":"additional","affiliation":[{"name":"Division of Molecular Biology and Human Genetics Stellenbosch University and Medical Genetics, Tygerberg Hospital  Cape Town South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahida","family":"Moosa","sequence":"additional","affiliation":[{"name":"Division of Molecular Biology and Human Genetics Stellenbosch University and Medical Genetics, Tygerberg Hospital  Cape Town South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allan","family":"Bayat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Danish Epilepsy Center  Dianalund Denmark"},{"name":"Department of Regional Health Research University of Southern Denmark  Odense Denmark"},{"name":"Department of Drug Design and Pharmacology University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,11,27]]},"reference":[{"issue":"1","key":"e_1_2_11_2_1","first-page":"65","article-title":"A Recurrent Pattern Syndrome of Craniosynostosis Associated With Arachnodactyly and Abdominal Hernias","volume":"2","author":"Shprintzen R. J.","year":"1982","journal-title":"Journal of Craniofacial Genetics and Developmental Biology"},{"issue":"1","key":"e_1_2_11_3_1","first-page":"16","article-title":"Craniofacial and Musculoskeletal Abnormalities\u2014A Questionable Connective Tissue Disease","volume":"7","author":"Sugarman G.","year":"1981","journal-title":"Syndrome Identification"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.002"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36340"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61088"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.13354"},{"key":"e_1_2_11_8_1","article-title":"Eye Manifestations of Shprintzen\u2013Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review","author":"Choi J. H.","year":"2020","journal-title":"Case Reports in Genetics"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.61"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-02102-9"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2421"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14646","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14646","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14646","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T06:15:58Z","timestamp":1775801758000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14646"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,27]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1111\/cge.14646"],"URL":"https:\/\/doi.org\/10.1111\/cge.14646","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14646\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14646\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14646\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14646\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14646\/v1\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,27]]},"assertion":[{"value":"2024-09-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}