{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T10:01:30Z","timestamp":1780308090519,"version":"3.54.0"},"reference-count":13,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T00:00:00Z","timestamp":1773100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T00:00:00Z","timestamp":1773100800000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (\n                    <jats:italic>NSD1<\/jats:italic>\n                    ) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay. We describe a 43\u2010month\u2010old Korean girl born at 36\u2009+\u20091\u2009weeks with intrauterine growth restriction (birth weight 2200\u2009g, length 46\u2009cm, occipitofrontal circumference 42\u2009cm). At presentation, all growth parameters were below the 10th percentile, with dysmorphic features including epicanthal folds, telecanthus, and a wide nasal bridge. She walked at 14\u2009months but had an approximately 25\u2010month language delay. Chromosomal microarray revealed a de novo 1.8\u2009Mb duplication at 5q35.2q35.3 encompassing\n                    <jats:italic>NSD1<\/jats:italic>\n                    , classified as pathogenic (triplosensitivity score 3). A growth hormone (GH) stimulation test confirmed deficiency (peak GH 9.87 and 6.42\u2009ng\/mL). Recombinant human GH therapy (0.033 mg\/kg\/day) improved growth to the 5\u201310th percentile after 6\u2009months. This is the first reported Korean case of 5q35.2q35.3 duplication with reversed Sotos phenotype and GH deficiency, which expands the endocrine spectrum of the disorder and underscores the need for early genetic testing and endocrine evaluation. [Correction added after first online publication on 23 March 2026: The dosage of rGH therapy was corrected from \u201c0.1 IU\/kg\/day\u201d to \u201c0.033 mg\/kg\/day.]\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70112","type":"journal-article","created":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T10:05:26Z","timestamp":1773137126000},"page":"1696-1701","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["First Korean Case of 5\n                    <scp>q35.2q35.3<\/scp>\n                    Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5974-5109","authenticated-orcid":false,"given":"Sejin","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Pediatrics Keimyung University Dongsan Hospital, Keimyung University School of Medicine  Daegu Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6475-4886","authenticated-orcid":false,"given":"Jung Sook","family":"Ha","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Keimyung University Dongsan Hospital, Keimyung University School of Medicine  Daegu Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5600-6282","authenticated-orcid":false,"given":"Jun Chul","family":"Byun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keimyung University Dongsan Hospital, Keimyung University School of Medicine  Daegu Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,10]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1530\/EDM\u201020\u20100033"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31329"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.1.20"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36046"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng863"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.5734\/JGM.2021.18.1.48"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/brb3.3290"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36591"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010020\u201002240\u20105"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.galenos.2025.202568"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196407162710301"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63068"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33769"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70112","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70112","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70112","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T09:07:45Z","timestamp":1780304865000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70112"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,10]]},"references-count":13,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1002\/ajmg.a.70112"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70112","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,10]]},"assertion":[{"value":"2025-09-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}