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Association of Transcription Factor 4 (TCF4) variants with schizophrenia and intellectual disability

Hill, Matthew, Forrest, Marc P., Martin-Rendon, Enca and Blake, Derek J. 2014. Association of Transcription Factor 4 (TCF4) variants with schizophrenia and intellectual disability. Current Behavioral Neuroscience Reports 1 (4) , pp. 206-214. 10.1007/s40473-014-0027-9

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Genome wide association studies (GWAS) have revolutionized the study of complex diseases and have uncovered common genetic variants associated with an increased risk for major psychiatric disorders. A recently published schizophrenia GWAS replicated earlier findings implicating common variants in Transcription factor 4 (TCF4) as susceptibility loci for schizophrenia. By contrast, loss of function TCF4 mutations, although rare, cause Pitt-Hopkins syndrome (PTHS); a disorder characterized by intellectual disability (ID), developmental delay and behavioral abnormalities. TCF4 mutations have also been described in individuals with ID and non-syndromic neurodevelopmental disorders. TCF4 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that regulate gene expression at E-box-containing promoters and enhancers. Accordingly, TCF4 has an important role during brain development and can interact with a wide array of transcriptional regulators including some proneural factors. TCF4 may, therefore, participate in the transcriptional networks that regulate the maintenance and differentiation of distinct cell types during brain development. Here, we review the role of TCF4 variants in the context of several distinct brain disorders associated with impaired cognition.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher: Springer
ISSN: 2196-2979
Funders: Medical Research Council
Date of Acceptance: 8 October 2014
Last Modified: 20 May 2021 01:32

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