{"id":452,"date":"2024-02-07T23:04:32","date_gmt":"2024-02-07T23:04:32","guid":{"rendered":"https:\/\/sebgc.es\/blog\/?p=452"},"modified":"2024-02-07T23:04:33","modified_gmt":"2024-02-07T23:04:33","slug":"epigenetic-causes-of-overgrowth-syndromes","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2024\/02\/07\/epigenetic-causes-of-overgrowth-syndromes\/","title":{"rendered":"Epigenetic Causes of Overgrowth Syndromes"},"content":{"rendered":"\n<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\u00a0<em>NSD1<\/em>\u00a0and\u00a0<em>EZH2<\/em>\u00a0cause Sotos syndrome and Weaver syndrome, respectively, variants in DNA methyltransferase\u00a0<em>DNMT3A<\/em>\u00a0cause Tatton-Brown-Rahman syndrome, and variants in chromatin remodeler\u00a0<em>CHD8<\/em>\u00a0cause an autism spectrum disorder with overgrowth. In addition, very recently, a variant in histone reader protein\u00a0<em>SPIN4<\/em>\u00a0was 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.<\/p>\n\n\n\n<p><a href=\"https:\/\/academic.oup.com\/jcem\/article-abstract\/109\/2\/312\/7224411\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/academic.oup.com\/jcem\/article-abstract\/109\/2\/312\/7224411<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<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 [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":453,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,35,34],"tags":[],"class_list":["post-452","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-articulos","category-epigenetica","category-the-journal-of-clinical-endocrinology-metabolism"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/452","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=452"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/452\/revisions"}],"predecessor-version":[{"id":454,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/452\/revisions\/454"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media\/453"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=452"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=452"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=452"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}