Episignatures stratifying ADNP syndrome show modest correlation with phenotype [RNA-seq]

We conducted an independent study on 24 individuals with ADNP syndrome and replicated the existence of the two mutation-dependent ADNP episignatures. To probe whether the two distinct episignatures correlate with clinical outcomes, we used deep behavioral and neurobiological data from two prospective cohorts of individuals with a genetic diagnosis of ADNP syndrome. Examination of genome-wide methylation and gene expression, with deep clinical phenotypes from individuals with ADNP mutations.