The emerging roles of TCF4 in disease and development.

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Genome-wide association studies have identified common variants in transcription factor 4 (TCF 4 ) as susceptibility loci for schizophrenia , Fuchs ' endothelial corneal dystrophy , and primary sclerosing cholangitis . By contrast , rare TCF 4 mutations cause Pitt-Hopkins syndrome , a disorder characterized by intellectual disability and developmental delay , and have also been described in patients with other neurodevelopmental disorders . TCF 4 therefore sits at the nexus between common and rare disorders . TCF 4 interacts with other basic helix -loop-helix proteins , forming transcriptional networks that regulate the differentiation of several distinct cell types . Here , we review the role of TCF 4 in these seemingly diverse disorders and discuss recent data implicating TCF 4 as an important regulator of neurodevelopment and epithelial-mesenchymal transition .