Welcome to the CUX2 Foundation
Please send us an email to be connected to the CUX2 Facebook group.
Our Mission
The CUX2 Foundation is a parent-led 501(c)(3) nonprofit dedicated to advancing research into CUX2, a rare genetic mutation. We connect families, build research-ready patient cohorts, and raise funds to support scientific research that improves outcomes for those affected.
We exist to ensure no family navigates a CUX2 diagnosis alone. By building community, amplifying the collective voice of affected families, and working directly alongside researchers and clinicians, we are creating a path toward answers. Every family that joins strengthens the effort.
Please reach out to connect with our Facebook group, where multiple families are working together to find answers for our loved ones diagnosed with CUX2.
Email Us: Hello@cux2foundation.org
What is CUX2?
CUX2, or Cut Like Homeobox 2, is a gene that provides instructions for a protein the brain uses to guide the growth and development of neurons, particularly in the upper layers of the cerebral cortex. Mutations in this gene are spontaneous (de novo), meaning they are not inherited from either parent. When the CUX2 protein does not function correctly, it interferes with how neurons form, branch, and connect, which can affect brain development and function in a range of ways.
The effects of a CUX2 mutation vary significantly between individuals. Some children present with intellectual disability, speech delay, or autism spectrum disorder. Others present with a more severe profile that meets the criteria for Developmental and Epileptic Encephalopathy 67 (DEE67), a serious neurological condition characterized by early-onset seizures and significant neurodevelopmental impairment. DEE67 is currently the most formally characterized diagnosis associated with CUX2 mutations, though the full spectrum of CUX2-related conditions is still being studied. The condition is rare, with only a small number of diagnosed cases reported in the medical literature worldwide.
Symptoms associated with CUX2-related conditions can vary significantly between individuals. Common presentations include:
- Seizures, often beginning in the first months of life and resistant to medication
- Global developmental delay, affecting both motor and intellectual development
- Absent or significantly limited speech
- Movement disorders
- Autistic behaviors or stereotypic (repetitive) movements
- Intellectual disability
- Abnormal EEG findings
The CUX2 Foundation is actively conducting a natural history study to build a structured dataset of clinical experiences and outcomes across the CUX2 community. This research is a critical step toward advancing our understanding of CUX2-related conditions and supporting future therapeutic development. If your child has been diagnosed with a CUX2 mutation, we encourage you to reach out and participate.
This website uses cookies.
We use cookies to analyze website traffic and optimize your website experience. By accepting our use of cookies, your data will be aggregated with all other user data.