What is TBR1 syndrome?

TBR1 syndrome is caused by changes to the TBR1 gene. These changes can keep the gene from working as it should.

TBR1 plays a key role in the development of the brain. Many people who have TBR1 syndrome have autism and speech delay, intellectual disability, behavioral issues and gross motor delay. Also epilepsy, hypermobility and strabismus is known to occur with this syndrome. The severity of symptoms varies depending upon the kind of genetic mutation in the TBR1 gene.

Want to learn more about genes? Visits the TBR1 genecard site:

Graph from genecards.org

Digging deeper into TBR1 Genetics

As a small group of parents we are fortunate to have a scientist in our midst. Qing Chen is the mother of Landi, a lovely boy with a TBR1 genetic mutation. Qing is also a biologist, who obtained her PhD degree in 2021.

Because of Qing, we have this extra page on our website that is interesting for the curious among us. Qing dives deeper into TBR1 information and applies this to our small group. She writes in such a way that she makes it easier to non-scientists among us to understand the difficult field of genetics. If you have questions after reading this, please contact us.

Links

Dr Robert Hevner, Professor and Director of the Neuropathology Department of Pathology UCSD, has been researching the TBR1 gene for over 20 years. In this one-hour YouTube lecture he gives an elaborate insight in his research.

Driven by Science. United by Hope. Simons Searchlight includes leading researchers, families and individuals. Each of them is dedicated to advancing the science of genetic changes related to autism. TBR1 is one of the genes they study.

For parents, please also visit their specific TBR1 Facebook page for parents.

TBR1 syndrome is also known as IDDAS: Intellectual development disorder with autism and speech delay. www.kinderneurologie.eu explains the cause and the symptoms associated with TBR1.

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