Exhaustive methylation analysis revealed uneven profiles of methylation at <i>IGF2/</i>ICR1<i>/H19</i> 11p15 loci in Russell Silver syndrome

Abstract

The hypomethylation does not spread equally throughout the IGF2/ICR1/H19 locus, and some loci could have normal MI, which may lead to underdiagnosis of patients with RSS with ICR1 hypomethylation. The uneven pattern of methylation suggests that some CBSs may play different roles in the tridimensional chromosomal looping regulation of this locus.