Gene - KAT6A


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Research Article Summaries: 

Below, we've summarized several research articles that include information about KAT6A. We hope you find this information helpful! As we learn more from children who have these gene changes, we expect this list of resources and information to grow.

  • Millan et al. (2016) - Whole Exome Sequencing Reveals De Novo Pathogenic Variants in KAT6A as a Cause of a Neurodevelopmental Disorder

    The study used whole-exome sequencing (WES) to examine mutations of 1,028 patients with a suspected genetic cause for their developmental delay (DD) and/or intellectual disability (ID).  Ten individuals were found to have genetic changes (mutations) in the KAT6A gene. Since four of these families have already been reported, this article focuses on the remaining six new families.  All six patients were found to have de novo mutations (not present in either parent) that were predicted to have damaging effects on the function of the KAT6A gene product.  These patients were reported to experience moderate to severe neurodevelopmental delay, including absent or minimal verbal communication, slowed speech, hypotonia (low muscle tone), problems communicating with others, heart disease, microcephaly (small head size) and differences in their facial features; see the table below for a summary of the findings.


    Given the similarity of the findings in these six patients, it is likely that the de novo mutations identified in KAT6A are the cause of their intellectual disability, and it is suspected that the KAT6A gene could also play a role in how the brain, face, and heart develop.


  • Tham et al. (2015) Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

    This article describes seven individuals from six unrelated families who were found to have genetic changes involving KAT6A through whole exome sequencing (WES) or array CGH (comparative genomic hybridization).  The main characteristics of these individuals are summarized in the table below: 


    Six of these individuals had “truncating” mutations, which led to a shortened protein.  One individual was found to have a deletion of the entire KAT6A gene. This indicated that having only one working copy of the KAT6A gene is associated with the medical and developmental features described above. All of these genetic changes (mutations) were found to be de novo (not present in either parent) and were predicted to be damaging.  Further research is needed to better understand KAT6A, and patient participation is a crucial factor that will help scientists and families to learn more.


  • Arboleda et al. (2015) - De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

    This article examines the effects of nonsense mutations (genetic changes that result in a shortened protein) in KAT6A that were identified in four unrelated individuals with developmental delay (DD), microcephaly (small head size), and differences in facial features.  Through whole-exome sequencing (WES), four individuals were identified to have genetic changes not found in either parent, also called de novo mutations. Three of the individuals were found to have the same exact genetic change. The results found that mutations of KAT6A are a cause of a developmental delay syndrome. A summary of the common clinical features identified in these individuals are summarized in the table below:


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