IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance.

ABSTRACT:

Background

Insulin like growth factor 2 (IGF2) is an imprinted gene, which has an important role in fetal growth as established in mice models. IGF2 is downregulated through hypomethylation of a differentially methylated region (DMR) in Silver Russell syndrome (SRS), characterised by growth restriction. We have previously reported that severe pre- and post-natal growth restriction associated with insulin resistance and precocious pubarche in a woman without body asymmetry or other SRS features resulted from a balanced translocation affecting the regulation of her IGF2 gene expression. We hypothesised that severe pre- and post-natal growth restriction associated with insulin resistance and precocious pubarche in the absence of SRS are also caused by downregulation of IGF2 through hy

SUBMITTER: Murphy R 

PROVIDER: S-EPMC3459807 | biostudies-literature | 2012 May

REPOSITORIES: biostudies-literature