{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T13:44:03Z","timestamp":1792590243738,"version":"4.5.0"},"reference-count":83,"publisher":"The Endocrine Society","issue":"2","funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Human overgrowth disorders are characterized by excessive prenatal and\/or postnatal growth of various tissues. These disorders often present with tall stature, macrocephaly, and\/or abdominal organomegaly and are sometimes associated with additional phenotypic abnormalities such as intellectual disability and increased cancer risk. As the genetic etiology of these disorders have been elucidated, a surprising pattern has emerged. Multiple monogenic overgrowth syndromes result from variants in epigenetic regulators: variants in histone methyltransferases NSD1 and EZH2 cause Sotos syndrome and Weaver syndrome, respectively, variants in DNA methyltransferase DNMT3A cause Tatton-Brown-Rahman syndrome, and variants in chromatin remodeler CHD8 cause an autism spectrum disorder with overgrowth. In addition, very recently, a variant in histone reader protein SPIN4 was identified in a new X-linked overgrowth disorder. In this review, we discuss the genetics of these overgrowth disorders and explore possible common underlying mechanisms by which epigenetic pathways regulate human body size.<\/jats:p>","DOI":"10.1210\/clinem\/dgad420","type":"journal-article","created":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T20:16:30Z","timestamp":1689192990000},"page":"312-320","source":"Crossref","is-referenced-by-count":16,"title":["Epigenetic Causes of Overgrowth Syndromes"],"prefix":"10.1210","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0611-4901","authenticated-orcid":false,"given":"Julian C","family":"Lui","sequence":"first","affiliation":[{"name":"Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health , Bethesda, MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey","family":"Baron","sequence":"additional","affiliation":[{"name":"Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health , Bethesda, MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2023,7,14]]},"reference":[{"issue":"3","key":"2024042101062962800_dgad420-B1","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1210\/er.2011-0001","article-title":"Mechanisms limiting body growth in mammals","volume":"32","author":"Lui","year":"2011","journal-title":"Endocr Rev"},{"issue":"7933","key":"2024042101062962800_dgad420-B2","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/s41586-022-05275-y","article-title":"A saturated map of common genetic variants associated with human height","volume":"610","author":"Yengo","year":"2022","journal-title":"Nature"},{"issue":"9","key":"2024042101062962800_dgad420-B3","doi-asserted-by":"crossref","first-page":"3080","DOI":"10.1210\/jc.2014-1506","article-title":"Genetic evaluation of short stature","volume":"99","author":"Dauber","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"2024042101062962800_dgad420-B4","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1038\/s41574-018-0114-1","article-title":"The causes and consequences of pituitary gigantism","volume":"14","author":"Beckers","year":"2018","journal-title":"Nat Rev Endocrinol"},{"issue":"5","key":"2024042101062962800_dgad420-B5","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.ajhg.2017.03.010","article-title":"Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability","volume":"100","author":"Tatton-Brown","year":"2017","journal-title":"Am J Hum Genet"},{"issue":"3","key":"2024042101062962800_dgad420-B6","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1056\/NEJM196407162710301","article-title":"Cerebral gigantism in childhood. 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