Yes, we have some of our resources translated into French, German, Spanish, and Dutch.
Complete the KAT6A/KAT6B Patient Registry located on our website. Contact the KAT6 Foundation and we can connect you to various researchers currently studying different aspects of KAT6 gene variants.
KAT6A and KAT6B are closely related proteins. They are members of the MYST family of histone acetyltransferases, and have similar structure and amino-acid sequence identity.
KAT6A and KAT6B genes are known as epigenetic regulator genes such that they open our DNA to make the right genes available at the right time for our bodies to function properly. Like thread in a spool, the DNA inside our cells is tightly wrapped. The timing of when our DNA becomes unraveled, to allow our genes to perform their function at the right time, is critical to their development. Therefore, KAT6 genes do not just serve one small role, rather, they control the function of a wide variety of genes across our chromosomes.
Dr. Richard Kelley, MD, PhD, describes different treatments for GI issues in KAT6A and KAT6B in his webinar available on the KAT6 Foundation YouTube channel. In some cases supplements such as Cytra-3, l-carnitine and vitamin B5 can lead to significant improvements in your child’s GI pain. You can discuss these options with your child’s medical doctor.
Until recently, KAT6A and KAT6B gene mutations could only be found using a DNA test called Whole Exome Sequencing. More recently, KAT6A and KAT6B mutations have been added to a less extensive test known as the Intellectual Disability NGS Panel. Discuss these options with a geneticist and genetic counselor. Testing may give you the answers to your child’s developmental delays and/or health conditions.
- It is recommended that every individual diagnosed with a KAT6 gene mutation should see a cardiologist to rule out any structural heart problems.
- Monitoring weight gain in infancy is important. Feeding difficulties and reflux are common and may need significant medical support by a gastroenterologist.
- Your GI doctor can also help manage constipation, which is a common feature.
- It is also important to have vision assessed by a specialist and monitored yearly since eye problems occur in 60% of known cases.
- If your child experiences recurrent infections, discuss with your providers an immunology workup.
- KAT6B patients should have kidney and thyroid function tested.
- Consider undergoing a sleep study if signs of sleep apnea or sleep dysfunction.
- Other tests to consider include an abdominal ultrasound, audiology evaluation, and brain MRI. Discuss these tests with your child’s pediatrician.
KAT6 syndromes are a result of genetic mutations that occur early in embryonic development. Typically, KAT6A and KAT6B mutations are de novo, which in Latin means “from the beginning; anew”. In the context of genetics it means they are not inherited from a parent but are rather completely new to the family’s genealogy.
Currently doctors are treating the symptoms related to KAT6A and KAT6B on an individual basis, but there is no medication for KAT6 syndromes specifically. Your child may require medication to help control constipation, acid reflux, behavioral issues, seizures, sleep disturbances, and other health problems caused by the gene mutation.
Many parents have observed benefits from vitamins and supplements including: l-carnitine, pantothenic acid, coenzyme Q10, Vitamin E, Vitamin C, Cytra-3 and others. You can learn more about these supplements by watching Dr. Richard Kelley’s presentation from our 2022 Conference. It is essential to consult your child’s physician before starting anything new.
Every individual is different, but many in the KAT6A and KAT6B communities receive a wide variety of therapies as children to aid in their development.
- Physical therapists help improve gross motor development, which is typically delayed in our children due to abnormal muscle tone, motor planning difficulties and poor coordination.
- Occupational therapists work on fine motor activities required for daily living.
- Speech therapists work with our children in developing speech production, receptive language, signs and vocalizations. Many children have apraxia and struggle with the motor planning required for fluent speech. PROMPT speech therapy is highly recommended.
- Feeding therapists work with children with feeding difficulties. Many KAT6 children have feeding delays due to hypotonia and acid reflux, and others have structural damage that requires feeding tubes.
- Orthopedic intervention can be beneficial to patients with contractures, clubfoot, or hypotonia. Your child may benefit from specialized orthotics.
- Vision therapy is beneficial for individuals with Cortical Visual Impairment (CVI) or strabismus.
- Special education accommodations will likely be required for your child. Individuals with KAT6 have a wide range in intellectual ability, so it is impossible to predict how your child’s needs will need to be met in school. Early intervention programs may offer a special educator starting at birth if cognitive delays are present.
- Various alternative therapies may benefit your child, such as: aquatic therapy, music therapy, sensory therapy, sound therapy, voice therapy, hippotherapy, and biofeedback.
As of 2022, there are fewer than 600 people diagnosed with KAT6 gene variants. As these tests become more available and widely known, we expect these numbers to significantly increase.
Individuals have been identified in at least 40 different countries including: Albania, Argentina, Australia, Austria, Belgium, Brazil, Canada, Chile, China, Croatia, Denmark, Dominican Republic, Egypt, England, Estonia, Finland, France, Germany, India, Iraq, Ireland, Israel, Italy, Japan, Jordan, Kuwait, Lebanon, Netherlands, New Zealand, Norway, Philippines, Poland, Portugal, Qatar, Russia, Scotland, Spain, Sweden, Turkey, United States, and Venezuela. Please contact us so that we connect you with families living in your region.
Yes, the KAT6 Foundation created a KAT6A & KAT6B Handbook in 2022. This is a useful resource for caregivers and medical doctors.
We are collecting data through the KAT6A/KAT6B Patient Registry in order to conduct a longitudinal study. Currently, the oldest known individual diagnosed with KAT6A is in his 50’s, and with KAT6B is in her 40’s. We will learn more about the progression of KAT6A and KAT6B as more cases are identified and followed over time.
Research studies report that 100% of KAT6A and KAT6B individuals have speech and language delays. Yet, there’s a wide range in language ability in this group. Some children are nonspeaking and communicate through signs, body language or AAC (augmentative and alternative communication) techniques. Others are verbal teens and adults despite language delays as young children. Many parents report that their children have markedly better receptive language than expressive language.
For more information on speech development in KAT6A, refer to the Fact Sheet: Speech, Language and Communication in KAT6A Syndrome – September 2023
In de novo KAT6A and KAT6B gene mutations, there is a 2% risk of the syndrome reoccurring for the same parents. Very occasionally the genetic mutation can be found in some of the cells of one of the parents, this is called ‘gonadal mosaicism’. In such cases, it is possible to have further children with this condition. In rare instances, KAT6 gene mutations are inherited. In these cases, there is a 50% chance that any offspring will inherit the genetic mutation. For this reason it is recommended for families wanting to have more children to speak with a genetic counselor.
We are looking for volunteers to help on various committees of the foundation. Please contact us and we can put you in touch with the foundation leaders. Our greatest need is in planning fundraising events and connecting with potential corporate donors. We are also looking for individuals experienced in writing grants so that we can continue to drive KAT6 research. We hope that you will spread the word about the KAT6 Foundation to help raise awareness that could potentially lead to more diagnoses and greater inclusion and acceptance of KAT6 individuals.