Relevance to Autism

A de novo missense variant in the KAT6B gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014), while a paternally-inherited nonsense variant in this gene was identified in an ASD proband from the SPARK cohort (Feliciano et al., 2019). Additional de novo variants in KAT6B have been identified in probands with intellectual disability (Lelieveld et al., 2016) and from the Deciphering Developmental Disorders 2017 study. Single-molecular molecular inversion probe (smMIP) sequencing of 7,954 probands from cohorts with a primary diagnosis of ASD in Wang et al., 2020 identified one individual with a likely-gene disruptive variant and 17 individuals with missense variants with CADD scores 30 in the KAT6B gene.

Molecular Function

The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Heterozygous mutations in KAT6B have been found in patients with genitopatellar syndrome (OMIM 606170) and SBBYSS syndrome (OMIM 603736).

External Links

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