SMCHD1 variants induce variegated expression in Facio Scapulo Humeral Dystrophy and Bosma Arhinia and microphtalmia syndrome (Methylation).

Determination of SMCHD1 epi-signature in type 2 Facio Scapulo Humeral Dystrophy (FSHD2) and Bosma Arhinia and Microphtalmia Syndrome (BAMS). By combining RNA Seq, DNA methylation profiling and ChIP-Seq, we showed that SMCHD1 regulates repressed chromatin but also cis-regulatory elements and enhancers.