TCF7L2

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.

Key Role

The TCF7L2 gene is important for communication between cells.

Symptoms

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
Nearsightedness

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.

BRAIN

In one study, all participants with TCF7L2-related neurodevelopmental disorder (TRND) had developmental delays

EYES

About 50 percent of people who have TCF7L2-related neurodevelopmental disorder (TRND) have nearsightedness

Support Resources

Simons Searchlight Community – TCF7L2 Facebook group
TRND Network
- TRND Network – trndnetwork.org
- TRND Network – Facebook group

GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for TCF7L2.

Research Article Summaries

We currently do not have any article summaries for TCF7L2, but we add resources to our website as they become available.

The information available about TCF7L2 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for TCF7L2 articles can be found here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about TCF7L2 genetic changes by taking part in our research. You can learn more about the project and sign up here.

Family Stories

We do not currently have any stories from TCF7L2 families.

Click here to share your family’s story!