{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T05:54:36Z","timestamp":1773035676269,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T00:00:00Z","timestamp":1753142400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T00:00:00Z","timestamp":1753142400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Sotos syndrome is an autosomal dominant disorder resulting from pathogenic variants of the\n                    <jats:italic>NSD1<\/jats:italic>\n                    gene. In this study, we present five Chinese paediatric cases, including two previously unreported\n                    <jats:italic>NSD1<\/jats:italic>\n                    variants: a nonsense mutation (c.1486A\u2009&gt;\u2009T p. Lys496*) and a missense mutation (c.6086C\u2009&gt;\u2009T) (p. Thr2029Ile) respectively. Additionally, we analyzed the genotypic and phenotypic spectrum of 23 Chinese children with molecularly confirmed Sotos syndrome. Patients exhibited characteristic craniofacial features and significant overgrowth. All patients showed DD\/ID and five patients (21.7%) showed symptoms of ASD. Febrile seizures occurred in six patients (26.1%). Abnormalities on cranial imaging were generally nonspecific. Other clinical features were also shown, such as atrial septal defect (5 cases), patent ductus arteriosus (3 cases), scoliosis (2 cases) and neonatal hypoglycemia (2 cases). These findings underscore the phenotypic variability of Sotos syndrome and highlight the necessity for long\u2010term multidisciplinary follow\u2010up to delineate its evolving natural history and optimize clinical management.\n                  <\/jats:p>","DOI":"10.1002\/jdn.70032","type":"journal-article","created":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T08:10:10Z","timestamp":1753171810000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Sotos Syndrome With\n                    <i>NSD1<\/i>\n                    Mutations in a Chinese Cohort: Identification of Two Novel Mutations and Literature Review"],"prefix":"10.1002","volume":"85","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4603-1035","authenticated-orcid":false,"given":"Jianhui","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Neurology &amp; Rehabilitation Qingdao Women and Children's Hospital, Qingdao University  Qingdao Shandong People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luzhuang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology &amp; Rehabilitation Qingdao Women and Children's Hospital, Qingdao University  Qingdao Shandong People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0109-5630","authenticated-orcid":false,"given":"Dianrong","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Neurology &amp; Rehabilitation Qingdao Women and Children's Hospital, Qingdao University  Qingdao Shandong People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leihong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology &amp; Rehabilitation Qingdao Women and Children's Hospital, Qingdao University  Qingdao Shandong People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology &amp; Rehabilitation Qingdao Women and Children's Hospital, Qingdao University  Qingdao Shandong People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei","family":"Hou","sequence":"additional","affiliation":[{"name":"Department of Neurology &amp; Rehabilitation Qingdao Women and Children's Hospital, Qingdao University  Qingdao Shandong People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,7,22]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20102\u201036"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a026708"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw103"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000036169"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1510333"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/345647"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.13362\/jj.pmed.202101013"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/medicina58070968"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.3969\/j.issn.1674\u20108115.2016.08.011"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0149189"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803\u2010016\u20102941\u2010z"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/brb3.3290"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.3969\/j.issn.1673\u20108640.2018.04.018"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.1003\u20109406.2020.02.006"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.3877\/cmaj.i.ssn.1673\u20105250.2022.06.011"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528\u20101167.2012.03418.x"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920\u2010024\u201001889\u20105"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096\u20108628(19970211)68:4<462::aid\u2010ajmg18>3.0.co;2\u2010q"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37373"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196407162710301"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201686"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078\u20100432.CCR\u201017\u20100631"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.827802"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.201901757R"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887\u2010024\u201004636\u2010y"},{"key":"e_1_2_12_27_1","unstructured":"Zhang B.andC.Gong.2022. \u201cSotos Syndrome With a De Novo Mutation of NSD1 Gene: A Case Report.\u201d 2022\u201012\u201002.\u00b7Chinese.http:\/\/journal.yiigle.com."},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.3969\/j.issn.1673\u20108640.2021.02.003"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.70032","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jdn.70032","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.70032","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T04:56:35Z","timestamp":1773032195000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.70032"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,22]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1002\/jdn.70032"],"URL":"https:\/\/doi.org\/10.1002\/jdn.70032","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"value":"0736-5748","type":"print"},{"value":"1873-474X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,22]]},"assertion":[{"value":"2025-03-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70032"}}