Epigenetic Analysis of the IGF2/H19 locus in the NESTEGGG Small for Gestational Age Population

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Amongst low birth weight babies there is a subgroup with certain clinical features that are defined as Silver-Russell syndrome. Recent work elsewhere has shown there to be abnormalities in specific modifications to the DNA in the IGF-2 gene in a proportion of SRS patients. This so-called ‘epigenetic‘ modification results in reduced production of the IGF-2 growth factor which thus provides an explanation for the syndrome. Independently of this work the Endocrine Centre has led the collection of ~1500 families with one or more children born with low birth weight and/or failure of childhood growth (the NESTEGG study). The Fellow will investigate the frequency of epigenetic abnormalities of the IGF-2 gene in SRS and non-SRS patients in NESTEGG, and will further examine whether other causes of reduced production or action of IGF-2 contribute to this syndrome, or to low birth weight in general.