KAT6B is a rare genetic syndrome resulting from a mutation in the KAT6B gene. The KAT6B gene modifies structural proteins, which are important for the development of the nervous and skeletal systems. In addition, it has been associated with two overlapping disorders: Say-Barber-Biesecker-Young-Simpson (SBBYS), also known as Ohdo Syndrome, and Genitopatellar Syndrome (GPS). There is a broad spectrum of diagnosis, including intellectual and physical disabilities that comes with each person with KAT6B syndromes. Currently, geneticists are working and developing additional studies to better understand KAT6B syndromes.
As of 2022, approximately 150 people have been diagnosed with a KAT6B gene variant from around the world. Many individuals have been identified through a DNA test, Whole Exome Sequencing, which is easily administered with saliva samples from both parents and child. In most cases, the KAT6B mutation was de novo, meaning that it was not inherited from either parent. Additionally, it is rarely repeated within siblings.
Has your child recently been diagnosed with a KAT6B genetic variant?
The KAT6 Foundation developed a KAT6A & KAT6B Handbook in 2022 to help guide caregivers.
Read the KAT6B- Related Disorders report published by National Organization for Rare Disorders (NORD) on March 13, 2023.
