A case-control analysis of the frequency of ELP4 CNVs from 2,845 ASD cases compared with 6,469 control individuals identified a significant excess of CNVs in cases vs. controls (P=2.7 x 10-3) (Addis et al., 2015).
The protein encoded by the ELP4 gene acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. This gene has also been associated with Rolandic epilepsy.
Type of Disorder
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.