This website provides information on patients with mutations in the TCF7L2, transcription factor 7-like 2 gene, including clinical data, molecular data, management and research options.

TCF7L2-related neurodevelopmental disorder is a rare, recently described condition caused by heterozygous pathogenic variants in the TCF7L2 gene, which encodes a transcription factor acting in the Wnt/β-catenin signalling pathway and plays a critical role in brain development.

To date, all reported pathogenic variants have arisen de novo. The disorder follows an autosomal dominant genetic pattern and appears to result primarily from haploinsufficiency, particularly for truncating variants.

Affected individuals typically present in early childhood with developmental delay, most prominently involving speech, cognitive, and motor development. Reported clinical features include mild intellectual disability, autism-like behaviours, and attention-deficit/hyperactivity disorder (ADHD). Myopia and variable dysmorphic physical features may also be present.

The clinical presentation is markedly heterogeneous, and not all individuals with pathogenic TCF7L2 variants exhibit the same combination or severity of symptoms. Due to the limited number of reported cases, the full phenotypic spectrum and prevalence of TRND remain to be defined.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the TCF7L2 gene.

Marta Wisniewska, PhD, University of Warsaw, Warsaw, Poland, m.wisniewska@cent.uw.edu.pl

Lukasz Szewczyk, PhD, University of Warsaw, Warsaw, Poland, l.szewczyk@cent.uw.edu.pl