A maternally-inherited silent variant in HDAC6 that resulted in partial skipping of exon 3 of the gene was detected in a male ASD patient (Piton et al., 2012).
Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. In addition to its protein deacetylase activity, plays a key role in the degradation of misfolded proteins
Type of Disorder
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.