New findings shed light on rare newly identified TCF7L2-related neurodevelopmental disorder

Researchers have completed the largest study to date of TCF7L2-related neurodevelopmental disorder (TRND), a rare genetic condition caused by changes in the TCF7L2 gene, which plays an important role in brain development. By analyzing 76 patients from around the world in collaboration with sites across 14 countries and several U.S. cities, including Philadelphia and Boston, the team found that the most common identifying features were speech delay, autism, developmental delays, vision problems such as nearsightedness, and orthopedic issues affecting the muscles and skeleton.

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