What is KAT6B Syndrome?

KAT6B syndrome is a rare genetic disorder caused by mutations in the KAT6B gene, which is involved in histone acetylation—a key process in regulating gene expression during development. Mutations in this gene disrupt normal growth and development, particularly affecting skeletal, neurological, and facial development. KAT6B syndrome includes two overlapping clinical diagnoses: Genitopatellar syndrome (GPS), and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS). These are now recognized as part of a spectrum of KAT6B-related disorders, with varying severity.

Most cases of KAT6B syndrome are caused by de novo mutations, meaning they occur spontaneously and are not inherited from a parent. Research into KAT6B continues to uncover how mutations affect development at the cellular level and to identify pathways that may be targeted for treatment.

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

Download Handbook

Read the KAT6B- Related Disorders report published by National Organization for Rare Disorders (NORD) on March 13, 2023.

Common Traits Are:

Global developmental delay
Intellectual disability
Feeding difficulties
Hypotonia

Problems with hips or knees
Heart defects
Distinct facial features
Growth problems

Less Common Traits Include:

Hearing impairment
Hypothyroidism
Skull abnormalities
Autism

Genital anomalies
Seizure disorders
Kidney problems
Dental anomalies

Do you think your child could have KAT6B syndrome?

Talk to your child’s geneticist to find the right test for your family. The Intellectual Disability NGS Panel can identify KAT6B gene mutations and includes over 500 genes in total.

Whole Exome Sequencing is a more extensive DNA test used to diagnose KAT6B gene mutations 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).

Donate Now