KAT6A is a rare syndrome resulting from a mutation in the KAT6A gene. Through genetic research, we have learned that the KAT6A gene makes the KAT6A protein. The KAT6A protein is involved in controlling the production of proteins from other genes. Therefore, when there is a change on the KAT6A gene, problems can occur in various parts of the body. Currently, scientists do not know all of the functions of the KAT6A gene so our knowledge will increase as research advances.
Through 2017 about 100 people have been diagnosed with KAT6A from around the world. Individuals were identified through a test called Whole Exome Sequencing after various other blood and diagnostic tests came back normal. In most of the cases, the KAT6A mutation was de novo, meaning that it was not inherited from either parent.
Each person with KAT6A syndrome has a different mutation along the KAT6A gene, which leads to a wide range in symptoms and features. Common traits are: developmental delay, intellectual disability, feeding difficulties, constipation, acid reflux, significant speech and language deficits, heart defects, seizure disorders, frequent infections, sleep disturbances, abnormal muscle tone, vision problems, behavioral challenges, small head size and distinct facial features. It is important to note that many parents describe their children as happy and healthy despite global developmental delays.