The KAT8 gene encodes lysine acetyltransferase-8. This catalytic subunit is essential for epigenetic regulation of the entire genome. KAT8 acetylates histone H4 at lysine (K) 16 (H4K16) which is important for DNA damage response and nuclear architecture. In mice, KAT8 was shown to be expressed in the neonatal cerebrum suggesting its role in cerebral development.
Eight individuals affected with LIGOWS had de novo missense KAT8 heterozygous variants, and one had an inherited compound heterozygous for missense and nonsense variants. Rare autosomal recessive inheritance and incomplete penetrance could therefore be possible.
KAT8