{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T07:12:29Z","timestamp":1775805149306,"version":"3.50.1"},"reference-count":8,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T00:00:00Z","timestamp":1763078400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T00:00:00Z","timestamp":1763078400000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>KDM3B<\/jats:italic>\n                    encodes a histone lysine demethylase and is involved in transcriptional regulation. Patients with heterozygous pathogenic variants in\n                    <jats:italic>KDM3B<\/jats:italic>\n                    are diagnosed with Diets\u2010Jongmans syndrome (DIJOS), a rare autosomal dominant disorder characterized by intellectual disability, developmental delay, distinctive facial features, and short stature. Here, we report the identification of a novel frameshift variant in\n                    <jats:italic>KDM3B<\/jats:italic>\n                    in a seven\u2010month\u2010old male patient evaluated for small stature, microcephaly, facial asymmetry, and mild gross motor delays. A trio exome with results at 14\u2009months of age identified a\n                    <jats:italic>de novo<\/jats:italic>\n                    pathogenic variant in\n                    <jats:italic>KDM3B<\/jats:italic>\n                    , c.2446del p.(Ser816Valfs*6). At 15\u2009months of age, the patient demonstrated additional clinical findings of mild bilateral epicanthal folds, short philtrum, mildly downslanting palpebral fissures, broad nasal bridge, and mildly simplified ears, while his physical and behavioral development remained age appropriate. This is the youngest known patient with a\n                    <jats:italic>de novo<\/jats:italic>\n                    <jats:italic>KDM3B<\/jats:italic>\n                    variant identified before 1\u2009year of age. Unlike other DIJOS patients, the current proband does not have signs of significant neurodevelopmental delay. Additionally, he has unilateral facial asymmetry, which had not been previously reported in DIJOS patients. This patient's unique and evolving clinical features further our understanding of the phenotypic diversity and may inform the long\u2010term prognosis of DIJOS.\n                  <\/jats:p>","DOI":"10.1111\/cge.70107","type":"journal-article","created":{"date-parts":[[2025,11,15]],"date-time":"2025-11-15T04:24:01Z","timestamp":1763180641000},"page":"926-930","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel\n                    <i>De Novo KDM3B<\/i>\n                    Variant in the Youngest Reported Male Patient With Diets\u2010Jongmans Syndrome and Facial Asymmetry"],"prefix":"10.1111","volume":"109","author":[{"given":"Somin","family":"Jo","sequence":"first","affiliation":[{"name":"University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Lee","sequence":"additional","affiliation":[{"name":"University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lori","family":"White","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7447-8117","authenticated-orcid":false,"given":"Amelle","family":"Shillington","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-4069-7778","authenticated-orcid":false,"given":"Anne","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5591-9335","authenticated-orcid":false,"given":"Yaning","family":"Wu","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,14]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00133-12"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.202100230R"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.02.023"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2022.100927"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-023-00711-1"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-01096-4"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2019-0811"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.526779"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70107","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70107","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70107","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T06:23:51Z","timestamp":1775802231000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70107"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,14]]},"references-count":8,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1111\/cge.70107"],"URL":"https:\/\/doi.org\/10.1111\/cge.70107","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,14]]},"assertion":[{"value":"2025-08-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}