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J Pediatr Genet 2017; 06(01): 030-041
DOI: 10.1055/s-0036-1593849
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors

Laila C. Schenkel
1   Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada
2   Children's Health Research Institute, London, Ontario, Canada
,
David Rodenhiser
2   Children's Health Research Institute, London, Ontario, Canada
3   Department of Biochemistry, Western University, London, Ontario, Canada
4   Department of Pediatrics, Western University, London, Ontario, Canada
5   London Regional Cancer Program, London Health Sciences Centre, London, Ontario, Canada
6   Department of Oncology, Western University, London, Ontario, Canada
,
Victoria Siu
2   Children's Health Research Institute, London, Ontario, Canada
4   Department of Pediatrics, Western University, London, Ontario, Canada
5   London Regional Cancer Program, London Health Sciences Centre, London, Ontario, Canada
,
Elizabeth McCready
7   Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
,
Peter Ainsworth
1   Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada
2   Children's Health Research Institute, London, Ontario, Canada
3   Department of Biochemistry, Western University, London, Ontario, Canada
4   Department of Pediatrics, Western University, London, Ontario, Canada
5   London Regional Cancer Program, London Health Sciences Centre, London, Ontario, Canada
6   Department of Oncology, Western University, London, Ontario, Canada
,
Bekim Sadikovic
1   Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada
5   London Regional Cancer Program, London Health Sciences Centre, London, Ontario, Canada
2   Children's Health Research Institute, London, Ontario, Canada
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30. September 2015

14. April 2016

Publikationsdatum:
08. November 2016 (online)

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Abstract

There are more than 4,000 phenotypes for which the molecular basis is at least partly known. Though defects in primary DNA structure constitute a major cause of these disorders, epigenetic disruption is emerging as an important alternative mechanism in the etiology of a broad range of congenital and developmental conditions. These include epigenetic defects caused by either localized (in cis) genetic alterations or more distant (in trans) genetic events but can also include environmental effects. Emerging evidence suggests interplay between genetic and environmental factors in the epigenetic etiology of several constitutional “epi/genetic” conditions. This review summarizes our broadening understanding of how epigenetics contributes to pediatric disease by exploring different classes of epigenomic disorders. It further challenges the simplistic dogma of “DNA encodes RNA encodes protein” to best understand the spectrum of factors that can influence genetic traits in a pediatric population.

Keywords

pediatric diseases - DNA methylation - genetic syndromes - epigenetics - environmental exposures - imprinting