Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23

Epigenetic dysfunction has been implicated in a growing list of disorders that include cancer, neurodevelopmental disorders, and neurodegeneration. Williams syndrome (WS) and 7q11.23 duplication syndrome (Dup7) are rare neurodevelopmental disorders with broad phenotypic spectra caused by deletion and duplication, respectively, of a 1.5-Mb region that includes several genes with a role in epigenetic regulation. We have identified striking differences in DNA methylation across the genome between blood cells from children with WS or Dup7 and blood cells from typically developing (TD) children.

http://www.cell.com/ajhg/abstract/S0002-9297(15)00233-5?rss=yes

Source: The American Journal of Human Genetics - July 9, 2015 Category: Genetics & Stem Cells Authors: Emma Strong, Darci T. Butcher, Rajat Singhania, Carolyn B. Mervis, Colleen A. Morris, Daniel De Carvalho, Rosanna Weksberg, Lucy R. Osborne Tags: Article Source Type: research