Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Samin A SajanShalini N JhangianiDonna M MuznyRichard A GibbsJames R. LupskiDaniel G GlazeWalter E KaufmannSteven A SkinnerFran AnneseMichael J FriezJane LaneAlan K PercyJeffrey Lorenz NeulPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
The genetic etiology of RTT without MECP2, CDKL5, and FOXG1 mutations is heterogeneous, overlaps with other NDDs, and complicated by a high mutation burden. Dysregulation of chromatin structure and abnormal excitatory synaptic signaling may form two common pathological bases of RTT.Genet Med 19 1, 13-19.