Article
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.
American journal of human genetics - 1 Apr 2006
Bliek Jet, Terhal Paulien, van den Bogaard Marie-José, Maas Saskia, Hamel Ben, Salieb-Beugelaar Georgette, Simon Marleen, Letteboer Tom, van der Smagt Jasper, Kroes Hester, Mannens Marcel
Abstract excerpt
The H19 differentially methylated region (DMR) controls the allele-specific expression of both the imprinted H19 tumor-suppressor gene and the IGF2 growth factor. Hypermethylation of this DMR--and subsequently of the H19 promoter region--is a major cause of the clinical features of gigantism and/or asymmetry seen in Beckwith-Wiedemann syndrome or in isolated hemihypertrophy. Here, we report a series of patients...
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