YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction.

This SuperSeries is composed of the SubSeries listed below. Individuals with mutations or deletion in YY1 were identified among patients with idiopathic intellectual disability. LCLs were established from 4 of these patients (1 deletion, 2 missense mutations, and 1 non-sense mutation undergoing non-sense-mediated decay) as well as from unrelated controls, and their transcriptome and epigenome were compared.