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Epigenetic Causes of Overgrowth Syndromes
- Source :
- The Journal of Clinical Endocrinology & Metabolism; February 2024, Vol. 109 Issue: 2 p312-320, 9p
- Publication Year :
- 2024
-
Abstract
- 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 NSD1and EZH2cause Sotos syndrome and Weaver syndrome, respectively, variants in DNA methyltransferase DNMT3Acause Tatton-Brown-Rahman syndrome, and variants in chromatin remodeler CHD8cause an autism spectrum disorder with overgrowth. In addition, very recently, a variant in histone reader protein SPIN4was 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.
Details
- Language :
- English
- ISSN :
- 0021972X and 19457197
- Volume :
- 109
- Issue :
- 2
- Database :
- Supplemental Index
- Journal :
- The Journal of Clinical Endocrinology & Metabolism
- Publication Type :
- Periodical
- Accession number :
- ejs65203461
- Full Text :
- https://doi.org/10.1210/clinem/dgad420