Two de novo loss-of-function variants in the PHF2 gene have been identified in ASD probands from the Simons Simplex Collection (refs).
Lysine demethylase that demethylates both histones and non-histone proteins. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure.
Type of Disorder
De novo gene disruptions in children on the autistic spectrum.