A familial disorder of altered DNA-methylation

Genomic imprinting is an epigenetic process leading to parent-of-origin specific DNA methylation and gene expression. There are several recognizable phenotypes caused by DNA-methylation changes at disease specific imprinted loci. In the recent years it became obvious that some patients exhibit changes of DNA-methylation at multiple imprinted loci. We report a family with three offspring who were all affected by a widespread disorder of DNA methylation not only of maternally and paternally imprinted genes but also of a considerable number of loci not known to be associated with parent-of-origin specific DNA-methylation. This family suggests the existence of a hitherto unrecognised disorder of genomic imprinting. (By Dr. med. Almuth Caliebe, http://jmg.bmj.com/content/early/2014/04/10/jmedgenet-2013-102149 )