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TCF7L2

Below is a summary for the TCF7L2 gene observed in the following research publication:

Dias, C., Pfundt, R., Kleefstra, T., Shuurs-Hoeijmakers, J., Boon, E. M. J., van Hagen, J. M. et al. (2021). De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. American Journal of Medical Genetics Part A, 185A: 2384– 2390. [American Journal of Medical Genetics] [05/2021]

This is not meant to take the place of medical advice.

What is TCF7L2-related neurodevelopmental disorder (TRND)?

TCF7L2-related neurodevelopmental disorder (TRND) happens when someone has a change in the TCF7L2 gene. Changes in this gene can cause problems in communication between cells.

Key Role

The TCF7L2 gene contains the instructions for making the TCF7L2 protein. This protein is important for making other proteins. Variants in the TCF7L2 gene may be associated with the following conditions: type 2 diabetes, colon cancer, schizophrenia, and neurodevelopmental disorders.

Symptoms

Most people who have TCF7L2-related neurodevelopmental disorder (TRND) have:

Developmental delays, most commonly speech delay

Other symptoms may include:

Autism spectrum disorder (36 percent)

Do people who have TCF7L2-related syndrome look different?

People who have TCF7L2-related neurodevelopmental disorder (TRND) may look different. Appearances can vary.

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

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.

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