Learn more about the KAT6A gene and connect with other Simons Searchlight families with the resources below:


Support Resources


Research Article Summaries

Below, we have summarized research articles about changes in the KAT6A gene. We hope you find this information helpful.

The information available about KAT6A is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.


Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder

Original research article by F. Millan et al. (2016)

Read the abstract here and the Simons Searchlight summary here.


Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features

Original research report by E. Tham et al. (2015)

Read the report here and the Simons Searchlight summary here.


De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay

Original research article by V.A. Arboleda et al. (2015)

Read the abstract here and the Simons Searchlight summary here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about KAT6A genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

We do not currently have any stories from KAT6A families.

Click here to share your family’s story!