What is KAT6A Syndrome?

KAT6A syndrome, also known as Arboleda-Tham Syndrome (ARTHS), is a rare genetic disorder caused by mutations in the KAT6A gene, which plays a role in regulating gene expression through a process called histone acetylation. This process is essential for controlling how and when certain genes are turned on or off, especially during early development.

The severity of symptoms can vary widely, even among individuals with similar mutations. KAT6A syndrome is typically not inherited but caused by a de novo mutation, meaning it arises spontaneously in the child. Research is ongoing to better understand how KAT6A mutations affect brain development and function, and to explore potential treatments.

Has your child recently been diagnosed with a KAT6A genetic variant?

The KAT6 Foundation developed a KAT6A & KAT6B Handbook to help guide caregivers.

Download Handbook

Each person with KAT6A syndrome has a different mutation along the KAT6A gene, which leads to a wide range in symptoms and features.

It is important to note that many parents describe their children as happy and healthy despite global developmental delays.

Common Traits Are:

Global developmental delay
Significant speech and language deficits
Feeding difficulties
Constipation

Acid reflux
Intellectual disability
Vision problems
Hypotonia
Heart Defects

Less Common Traits Include:

Seizure disorders
Frequent infections
Sleep disturbances
Autism

Abnormal muscle tone
Sensory issues
Skull abnormalities
Distinct facial features

Do you think your child could have KAT6A syndrome?

Talk to your child’s geneticist to find the right test for your family. The Intellectual Disability NGS Panel can identify KAT6A gene mutations and includes over 500 genes in total. Whole Exome Sequencing is a more extensive DNA test used to diagnose KAT6A syndrome and many other rare genetic disorders. Genetic testing may give you the answers to your child’s developmental delays and/or health conditions.

Join the KAT6A/KAT6B Patient Registry

MCRI is Seeking Participants for New KAT6A Research Study

Biomarker discovery in KAT6A for translation into clinical trials For KAT6A syndrome and other neurodevelopmental disorders, researchers are starting to understand the dysregulated cellular processes affecting neurons and their supporting cells. The Chromatin Disorders Research Team at Murdoch Children’s Research Institute is currently using a mouse model, alongside human cortical neurons to study gene expression […]

A Story of Strength, Resilience, and Gratitude

In August 2021, after years of specialist appointments, genetic testing, and searching for answers, our world changed when my son, Christopher, was diagnosed with KAT6B syndrome, a rare genetic neurodevelopmental disorder. From birth, we knew he was different. He was a beautiful baby, but as he grew, developmental delays, coordination struggles, and communication difficulties […]

Rare As One Network – Cycle 1 Impact Report

We are delighted to share that the Chan Zuckerberg Initiative’s, Rare As One Network Cycle 1 Impact Report, is now live on CZI’s website. The report includes our foundation’s individual and collective accomplishments during and after the grant period (2019-2023). Additionally, we are excited that the report and its key findings were published on December […]

Make a Difference

Help us support people and their families living with KAT6A and KAT6B syndromes. Your donations will fund vital research into KAT6A and KAT6B gene mutations and provide assistive equipment, technology, and therapies to families through our Empowered grants. All donations are tax deductible in the US and go to KAT6 Foundation, a nonprofit 501(c)(3).

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