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

by Perelman School of Medicine at the University of Pennsylvania

edited by Gaby Clark, reviewed by Andrew Zinin

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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.

Many patients also had distinctive facial features, helping researchers better define the condition and improve recognition and diagnosis. The study, led by senior author David Fajgenbaum, MD, MBA, MSc, and other researchers at the Perelman School of Medicine at the University of Pennsylvania, was recently published in Genetics in Medicine.

"By defining the genetic and clinical features of TRND across a large international cohort, we hope to improve recognition of the condition and accelerate future research regarding longitudinal outcomes and potential therapies," said first author Sally Nijim, MD, MBA, a resident physician-researcher at Mass General Brigham, who conducted the research while a medical student at Penn Medicine.

The study also found that symptoms can vary widely and identified a possible link between certain TCF7L2 variants and type 2 diabetes in adults that warrants further study. The TRND Network is an initiative born out of this study that connects TRND patients, families, physicians and researchers.

Publication details

Sally Nijim et al, Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND), Genetics in Medicine (2026). DOI: 10.1016/j.gim.2026.102642

A prospective natural history registry for longitudinal study of TRND patients is available for patient enrollment: trndnetwork.org/join-the-registry/

Journal information: Genetics in Medicine

Key medical concepts

Autistic DisorderDiabetes Type 2

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Clinical geneticsNeurologyChildren's healthPediatrics Provided by Perelman School of Medicine at the University of Pennsylvania Who's behind this story?

Gaby Clark

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Citation: New findings shed light on rare newly identified TCF7L2-related neurodevelopmental disorder (2026, September 17) retrieved 17 September 2026 from https://medicalxpress.com/news/2026-09-rare-newly-tcf7l2-neurodevelopmental-disorder.html This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only.