KAT6A syndrome, also known as Arboleda-Tham Syndrome (ARTHS), is a rare disorder 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.
As of 2022, approximately 350 people have been diagnosed with KAT6A from around the world. Many individuals were identified through a test called Whole Exome Sequencing. In most of the cases, the KAT6A variant was de novo, meaning that it was not inherited from either parent.
Has your child recently been diagnosed with a KAT6A genetic variant?
The KAT6 Foundation developed a KAT6A & KAT6B Handbook in 2022 to help guide caregivers.
