Below is a summary for the TCF7L2 gene observed in research publications. This is not meant to take the place of medical advice.
What is TCF7L2 -related neurodevelopmental disorder (TRND)?
TCF7L2 -related neurodevelopmental disorder happens when someone has a change in the TCF7L2 gene that causes it to lose its function. These changes can keep the gene from working as it should. This disorder is also called TRND.
Other genetic variations in the TCF7L2 gene can cause diabetes without a neurodevelopmental condition. Some genetic variations in this gene are linked to cancer.
The information below covers gene changes that lead to TRND.
The TCF7L2 gene is important for communication between cells.
Because the TCF7L2 gene is important for the proper function of brain cells, some people may have:
- Developmental delay
- Intellectual disability
- Attention deficit hyperactivity disorder, also called ADHD
- Speech delay
- Delay of motor development
- Autism spectrum disorder
Do people who have TCF7L2 -related syndrome look different?
TRND is very rare, and it is unknown if people with this condition look different. Some people have excessive hair growth on the body and a flattening of the back of the head as an infant.
How many people have TRND?
As of 2023, about 11 people with TRND have been described in medical research.
In one study, all participants with TCF7L2 -related neurodevelopmental disorder (TRND) had developmental delays
About 50 percent of people who have TCF7L2 -related neurodevelopmental disorder (TRND) have nearsightedness
Research Article Summaries