Multilocus methylation analysis in a large cohort of 11p15-related @entity851 ( XXXX ) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.

@entity1 @entity11591 @entity851 @entity50185 @entity23429 @entity5 @entity9288 @entity15047 @entity11123 @entity6815
Genomic imprinting plays an important role in @entity1 development. Loss of imprinting (LOI) through loss (LOM) or gain (GOM) of methylation is involved in many @entity1 disorders and @entity5 . The imprinted 11p15 region is crucial for the control of foetal growth and LOI at this locus is implicated in two clinically opposite disorders: @entity11123 ( @entity11123 ) with foetal overgrowth associated with an enhanced @entity5 risk and @entity6815 ( @entity6815 ) with intrauterine and postnatal growth restriction. So far, only a few studies have assessed multilocus LOM in @entity1 imprinting diseases. To investigate multilocus LOI syndrome, we studied the methylation status of five maternally and two paternally methylated loci in a large series (n = 167) of @entity1 with 11p15-related @entity851 . We found that 9.5% of @entity6815 and 24% of @entity11123 @entity1 showed multilocus LOM at regions other than @entity50185 and @entity23429 11 @entity9288 , respectively. Moreover, over two third of multilocus LOM @entity6815 @entity1 also had LOM at a second paternally methylated locus, @entity11591 / @entity15047 IG-DMR. No additional clinical features due to LOM of other loci were found suggesting an (epi)dominant effect of the 11p15 LOM on the clinical phenotype for this series of @entity1 . Surprisingly, four @entity1 displayed LOM at both @entity50185 and @entity23429 11 @entity9288 . Three of them had a @entity6815 and one a @entity11123 phenotype. Our results show for the first time that multilocus LOM can also concern @entity6815 @entity1 . Moreover, LOM can involve both paternally and maternally methylated loci in the same @entity1 .
