KAT6A encodes lysine acetyltransferase 6A (2,004 aa). Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. Highest expression in Lung (28.6 TPM) and Uterus (26.8 TPM).

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome is associated with mutations in the KAT6A gene on chromosome 8.

The KAT6A protein participates in KAT6A acetylates TP53, KAT6A and PML bind TP53, and KAT6A:ING5:MEAF6:BRPF1,(2,3):PML:Ac-K120,p-S15,S20-TP53, BRD7:p-S15,S20-TP53:EP300 pathways.

KAT6A is classified as a druggable target (Clinically Actionable, Enzyme, and Transcription Factor categories) with score 0.0.

Genetic testing for KAT6A is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 12 always present features, 9 very common features, 41 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome.

59 publications have been identified in PubMed for autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome. Kisho has analyzed 39 by research type. Research spans Case Report / Case Series (54%), Review / Meta-Analysis (21%), and Basic Science / Preclinical (13%).

Recent Publications

• Martain-Pérez I (2026). [PMID: 42184404](https://pubmed.ncbi.nlm.nih.gov/42184404/). *Bol Med Hosp Infant Mex*. [Case Report / Case Series]

• Ates K (2026). [PMID: 42204957](https://pubmed.ncbi.nlm.nih.gov/42204957/). *Dev Neurobiol*. [Review / Meta-Analysis]

• Liang H (2026). [PMID: 41965552](https://pubmed.ncbi.nlm.nih.gov/41965552/). *BMC Endocr Disord*. [Case Report / Case Series]

• Sabbagh Q (2026). [PMID: 41882293](https://pubmed.ncbi.nlm.nih.gov/41882293/). *Eur J Hum Genet*. [Epidemiology / Natural History]

• Kostopoulou E (2026). [PMID: 42065018](https://pubmed.ncbi.nlm.nih.gov/42065018/). *Case Rep Neurol Med*. [Case Report / Case Series]

• Harripaul R (2026). [PMID: 41865132](https://pubmed.ncbi.nlm.nih.gov/41865132/). *Sci Rep*. [Basic Science / Preclinical]

• Eccles S (2026). [PMID: 41702672](https://pubmed.ncbi.nlm.nih.gov/41702672/). *Life Sci Alliance*. [Basic Science / Preclinical]

• Mammadova N (2026). [PMID: 42053849](https://pubmed.ncbi.nlm.nih.gov/42053849/). *Mol Biol Rep*. [Case Report / Case Series]

• Musante L (2026). [PMID: 41709284](https://pubmed.ncbi.nlm.nih.gov/41709284/). *Genome Med*. [Basic Science / Preclinical]

• Voss AK (2026). [PMID: 42081590](https://pubmed.ncbi.nlm.nih.gov/42081590/). *PLoS Genet*. [Basic Science / Preclinical]