{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:16:28Z","timestamp":1777727788899,"version":"3.51.4"},"reference-count":14,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009988","name":"Huzhou Municipal Science and Technology Bureau","doi-asserted-by":"publisher","award":["2021GZB12"],"award-info":[{"award-number":["2021GZB12"]}],"id":[{"id":"10.13039\/501100009988","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014996","name":"Health Commission of Zhejiang Province","doi-asserted-by":"publisher","award":["2023KY323"],"award-info":[{"award-number":["2023KY323"]}],"id":[{"id":"10.13039\/501100014996","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:p>The carbon catabolite repression 4-negative on TATA-less transcription complex subunit 3 gene ( CONT3) plays a key role in regulating the mRNA transcription and protein translation of other genes. Mutations in CONT3 have also recently been implicated as a causative factor of intellectual developmental disorder with speech delay, autism, and dysmorphic facies (IDDSADF). However, to date, only a few CONT3 mutations have been reported to be associated with IDDSADF-related diseases. In the present case, we report a Chinese patient with developmental delay, verbal regression, and facial dysmorphism, in whom cerebral magnetic resonance imaging showed an expansion of the lateral ventricle. The patient was diagnosed with an IDDSADF-related disease caused by a de novo c.1616_1623del mutation in exon 14 of CONT3, which was confirmed by whole-exome sequencing and direct Sanger sequencing. This case report is the first known documentation of a pathogenic mutation at the c.1616_1623del locus of CONT3 in the worldwide population. It provides a critical theoretical basis for the specific gene-based diagnosis of IDDSADF-related diseases and expands the mutation profile of CONT3.<\/jats:p>","DOI":"10.1177\/03000605241272533","type":"journal-article","created":{"date-parts":[[2024,8,31]],"date-time":"2024-08-31T13:54:27Z","timestamp":1725112467000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel mutation identified in\n                    <i>CONT3<\/i>\n                    causes IDDSADF: a case report and literature review"],"prefix":"10.1177","volume":"52","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6434-9928","authenticated-orcid":false,"given":"Mengxiong","family":"Pan","sequence":"first","affiliation":[{"name":"Department of Neurology, The First People\u2019s Hospital of Huzhou, Huzhou, China"},{"name":"Department of Neurology, The First Affiliated Hospital of Huzhou Teachers College, Huzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Child Health Care, Huzhou Maternity & Child Healthcare Hospital, Huzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liming","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Child Health Care, Huzhou Maternity & Child Healthcare Hospital, Huzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ru","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Neurology, The First People\u2019s Hospital of Huzhou, Huzhou, China"},{"name":"Department of Neurology, The First Affiliated Hospital of Huzhou Teachers College, Huzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,8,31]]},"reference":[{"key":"bibr1-03000605241272533","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206524"},{"key":"bibr2-03000605241272533","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-304063"},{"key":"bibr3-03000605241272533","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0413-6"},{"key":"bibr4-03000605241272533","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13819"},{"key":"bibr5-03000605241272533","doi-asserted-by":"publisher","DOI":"10.1111\/head.12246"},{"key":"bibr6-03000605241272533","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.2681"},{"key":"bibr7-03000605241272533","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.02.023"},{"key":"bibr8-03000605241272533","doi-asserted-by":"publisher","DOI":"10.1126\/scisignal.aan3638"},{"key":"bibr9-03000605241272533","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2508"},{"key":"bibr10-03000605241272533","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-023-00713-z"},{"key":"bibr11-03000605241272533","doi-asserted-by":"publisher","DOI":"10.3390\/genes12071009"},{"key":"bibr12-03000605241272533","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2023.03.022"},{"key":"bibr13-03000605241272533","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2011-200661"},{"key":"bibr14-03000605241272533","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0639-2"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605241272533","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/03000605241272533","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605241272533","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:50:23Z","timestamp":1777459823000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/03000605241272533"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8]]},"references-count":14,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1177\/03000605241272533"],"URL":"https:\/\/doi.org\/10.1177\/03000605241272533","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8]]},"article-number":"03000605241272533"}}