HOPE FOR FAMILIES

Education and support for families and individuals affected by TUBB3 mutations

What is TUBB3?

TUBB3 is a human gene located on chromosome 16 that codes for a protein called beta-tubulin III. When a TUBB3 gene has changes, or mutations, that have caused a problem in a person’s body it is called TUBB3-related tubulinopathy. This is an ultra-rare genetic disorder that is diagnosed through genetic testing. TUBB3 mutations can be inherited or de novo, meaning occurring for the first time in the family. Though individuals with the same variant in TUBB3 often share many similarities, symptoms can vary from person to person and range in severity. TUBB3-related tubulinopathy can cause eye movement disorders, or it can affect the greater nervous system, or both. Individuals may have motor, social, or intellectual disabilities. They may have seizures, muscle weakness, brain malformations, and more. Some people with variants in TUBB3 grow up to become independent, and some will need lifelong assistance with daily functioning. There is currently no cure, but some symptoms can be treated with therapies, surgery, and medications.
People with variants in TUBB3 are us and people in our families. They are people living with tubulinopathy each day and reaching for their dreams.

Common Symptoms

developmental delays
limited gross and/or fine motor skills
low muscle tone and weakness
poor balance
eye movement disorders, including CFEOM
intellectual disability
Cyclic Vomiting Syndrome
seizures or epilepsy
numbness in limbs
Malformations of Cortical Development
facial weakness
hearing loss
skeletal or other abnormalities
mirror movements
tics or involuntary movements
autism

Featured TUBB3 Story

Allison

Allison was born a very happy, healthy girl, with no complications. At a couple of months old, we noticed she didn't push with her legs when being held in "standing" position, like most babies do. As time went on, she also didn't roll over or sit up at the normal age, and every milestone was missed or severely delayed. Just before age 1, Allison began what would become a long series of tests, dead ends, and misdiagnoses. In the meantime, we began physical, occupational, and vision therapies. Allison learned to walk independently at age 3 but she fell a lot and couldn't balance well. She couldn't climb and run on playgrounds and such, so she found her happy place in calm, sedentary activities like art, puzzles, and playing in the sand.

Our Vision

We envision a world where TUBB3 mutations are more easily diagnosed, where individuals and families affected can have a deeper understanding of TUBB3 related tubulinopathy through research as well as connections with other families, and where individuals have access to interventions that maximize quality of life.

Our Mission

To raise awareness of TUBB3 mutations through research and advocacy, and to connect and support individuals and families affected by TUBB3 mutations.

Where to Start?

Get Involved

Find other families affected by TUBB3, learn about special events, help spread awareness, and get support

See Research

Read studies and publications, see the ongoing research, and learn what doctors and researchers know about TUBB3

Ask Questions

Send a message to a member of the TUBB3 Foundation board with any questions you have or if you need help