Master's thesis of Applied Science (Medical laboratory Science): Mechanisms of DNA methylation defects at the IGF2 imprinting centre in patients with foetal growth disorders

Epigenetic defects (gain or loss of DNA methylation) of the human ICR1 11p15 domain result in two opposite foetal growth disorders (BWS and SRS) depending on which parental allele is affected. A few deletions within ICR1 have been reported in familial BWS cases with ICR1 gain of methylation, however the mechanism(s) of the DNA methylation defects at ICR1 remains largely unknown in most BWS and SRS patients. The aim of this project "Mechanisms of DNA methylation defects at the IGF2 imprinting centre in patients with foetal growth disorders" was to extensively characterize the ICR1 domain and the CTCF gene in a series of BWS and SRS patients with gain and loss of methylation at ICR1, respectively.