TCF7L2

The information for this summary of TCF7L2-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full TCF7L2 Gene Guide

The online Gene Guide includes more information about TCF7L2 such as the chance of having another child with this condition, behavior and development concerns linked to TCF7L2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

TCF7L2-related syndrome is also called TCF7L2-related neurodevelopmental disorder (TRND). For this webpage, we will be using the name TCF7L2-related syndrome to encompass the wide range of variants observed in the people identified.

What is TCF7L2-related syndrome?

TCF7L2-related syndrome happens when there are changes in the TCF7L2 gene. These changes can keep the gene from working as it should.

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 the neurodevelopmental condition.

Key Role

The TCF7L2 gene is important for communication between cells.

Symptoms

Because the TCF7L2 gene is important for brain activity, many people who have TCF7L2-related syndrome have:

  • Developmental delay
  • Intellectual disability
  • Attention-deficit/hyperactivity disorder, also called ADHD
  • Speech delay
  • Delay of motor development
  • Autism spectrum disorder
  • Sleep issues
  • Nearsightedness

How many people have TCF7L2-related syndrome?

As of 2024, at least 17 people with TCF7L2-related syndrome have been described in medical research.

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Support Resources

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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.

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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.

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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.

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Family Stories

We do not currently have any stories from TCF7L2 families.

Click here to share your family’s story!