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

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 ep

SUBMITTER: Schenkel LC 

PROVIDER: S-EPMC5288004 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature