Pluto Bioinformatics

GSE89010: Haploinsufficiency of Ehmt1 or Ehmt2 is associated with an unexpected increase in H3k9 methylation

Bulk RNA sequencing

Kleefstra syndrome is human intellectual disability (ID) syndrome caused by haploinsufficiency of the gene Ehmt1. The core features of this disease include severe mental retardation, autistic-like behavioral problems, developmental delay, childhood hypotonia and craniofacial abnormalities. Here, we profiled the epigenome of wild-type, Ehmt1+/- and Ehmt2+/- adult hippocampus, the main control hub for learning and memory, according to the IHEC (international human epigenome consortium) reference standards. As a result, comparative analysis of Ehmt1+/- and Ehmt2+/- epigenomes led us to hypothesize that kleefstra syndrome could belong to a novel, larger class of developmental ID disorders caused by aberrant repression of protocadherins. SOURCE: giovanni iaconoHolger Heyn CNAG,Centro Nacional de Análisis Genómico