{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T18:14:14Z","timestamp":1772993654412,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T00:00:00Z","timestamp":1770595200000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"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":[[2026,2]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background<\/jats:title>\n \n The\n HUWE1<\/jats:italic>\n gene plays a crucial role in mediating embryonic development as well as the differentiation and proliferation of neural cells. Variants in the\n HUWE1<\/jats:italic>\n are closely associated with intellectual developmental disorder. This study is designed to characterize the clinical phenotype of neurodevelopmental disorder in a cohort of seven children associated with variants in the\n HUWE1<\/jats:italic>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Blood samples of seven children with neurodevelopmental disorders and their parents were collected for trio whole exome sequencing.\n HUWE1<\/jats:italic>\n (NM_031407) variants were confirmed by Sanger sequencing.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n A total of 7 children were diagnosed as\n HUWE1<\/jats:italic>\n \u2010related neurodevelopmental disorder, involving three girls and four boys. All these\n HUWE1<\/jats:italic>\n variants were missense variants (four newly detected\n HUWE1<\/jats:italic>\n variant sites). This study suggested that\n HUWE1<\/jats:italic>\n variants posed varying influences on the facial features, height and speech, social and gross motor skills. Specifically, children with the p. Gly4310Arg variant presented malocclusion\u2010associated chewing and swallowing difficulties.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n Our findings further broaden the genotypic\u2010phenotypic spectrum of\n HUWE1<\/jats:italic>\n variants and highlight the crucial role of the HECT domain in the pathogenicity of\n HUWE1<\/jats:italic>\n gene variants. Moreover, children with\n HUWE1<\/jats:italic>\n variants exhibited certain symptoms of attention\u2010deficit\/hyperactivity disorder (ADHD), social dysfunction and abnormal chewing function, which warrant further investigation.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/jdn.70106","type":"journal-article","created":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T04:46:12Z","timestamp":1770698772000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel\n HUWE1<\/i>\n \u2010Related Neurodevelopmental Disorder: Genotypic and Phenotypic Expansion"],"prefix":"10.1002","volume":"86","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-0926-4549","authenticated-orcid":false,"given":"Yanyan","family":"Dai","sequence":"first","affiliation":[{"name":"Child Healthcare Department Children's Hospital of Nanjing Medical University Nanjing Jiangsu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerry","family":"Zhang","sequence":"additional","affiliation":[{"name":"Basis International School Nanjing Nanjing Jiangsu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dandan","family":"Wu","sequence":"additional","affiliation":[{"name":"Child Mental Health Department Children's Hospital of Nanjing Medical University Nanjing Jiangsu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ran","family":"Chen","sequence":"additional","affiliation":[{"name":"Child Healthcare Department Children's Hospital of Nanjing Medical University Nanjing Jiangsu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3919-0920","authenticated-orcid":false,"given":"Rong","family":"Li","sequence":"additional","affiliation":[{"name":"Child Healthcare Department Children's Hospital of Nanjing Medical University Nanjing Jiangsu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,2,9]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-15380-y"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.625564"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63959"},{"issue":"3","key":"e_1_2_12_5_1","first-page":"34","article-title":"Facial and Ocular Manifestations of Male Patients Affected by the HUWE1\u2010Related Intellectual Developmental Disorder","volume":"14","author":"Deshmukh S. P.","year":"2023","journal-title":"International Journal of Molecular Epidemiology and Genetics"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2015-009537"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.11.002"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13064-020-00143-9"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-023-01324-w"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2023.106163"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12929-018-0470-0"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.3928\/19382359-20240502-08"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0038-6"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcimb.2022.905906"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2023.104716"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2019.00349"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2009.07.009"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.70106","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jdn.70106","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.70106","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T14:51:58Z","timestamp":1772981518000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.70106"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1002\/jdn.70106"],"URL":"https:\/\/doi.org\/10.1002\/jdn.70106","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"value":"0736-5748","type":"print"},{"value":"1873-474X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2]]},"assertion":[{"value":"2025-08-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-26","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70106"}}