What is KAT6B?
KAT6 Foundation
What is the KAT6 Foundation?
The KAT6A Foundation was founded in 2017 by a handful of parents of children identified with mutations on their KAT6A gene. At the time, there were less than 50 known KAT6A cases. In the span of 5 years, our numbers have expanded to over 370 known KAT6A cases worldwide. In 2020, the KAT6A Foundation began fostering connections with the KAT6B community and in 2022, we formally became the KAT6 Foundation, an organization devoted to understanding mutations in both KAT6A and KAT6B genes. Today, there are more than 500 known cases of KAT6 syndromes worldwide, and we expect our numbers to continue to grow.
KAT6 Foundation Mission
The KAT6 Foundation supports individuals and their families who are living with KAT6A and KAT6B syndromes around the world. We advance scientific research aimed at developing treatments, and spread awareness of KAT6 syndromes so they can be more easily identified, treated, and studied.
About KAT6B
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.It all begins with an idea. Maybe you want to launch a business. Maybe you want to turn a hobby into something more. Or maybe you have a creative project to share with the world. Whatever it is, the way you tell your story online can make all the difference.
To learn more, donate or access resources for families, please visit www.kat6a.org.
Summary from NORD
KAT6B-related disorders are extremely rare genetic neurodevelopmental disorders caused by changes (pathogenic variants or mutations) in the KAT6B gene. Neurodevelopmental disorders impair or alter the growth and development of the brain and the central nervous system. Variants in the KAT6B gene can lead to a broad spectrum of signs and symptoms, some of which can be grouped into genitopatellar syndrome (GPS) or a type of Ohdo syndrome called Say-Barber-Biesecker-Young-Simpson (SBBYS) but features very frequently overlap. Commonly, these include varying degrees of intellectual disability, delays in reaching developmental milestones (developmental delays), feeding difficulties, diminished muscle tone (hypotonia), abnormalities affecting the heart, hips or knees and growth problems. Less common features include hearing impairment, seizures and autism-like behaviors, and abnormalities of the thyroid gland, skull, genitals, kidneys and teeth. In most instances, variants in the KAT6B gene occur spontaneously and there is no family history of the disorder (de novo variants). Treatment is based on the specific symptoms present in each individual.