Molecular and Cellular Function of Transcription Factor 4 in Pitt-Hopkins Syndrome

Author:

Chen Huei-Ying,Bohlen Joseph F.,Maher Brady J.

Abstract

Transcription factor 4 (TCF4, also known as ITF2 or E2-2) is a type I basic helix-loop-helix transcription factor. Autosomal dominant mutations in TCF4 cause Pitt-Hopkins syndrome (PTHS), a rare syndromic form of autism spectrum disorder. In this review, we provide an update on the progress regarding our understanding of TCF4 function at the molecular, cellular, physiological, and behavioral levels with a focus on phenotypes and therapeutic interventions. We examine upstream and downstream regulatory networks associated with TCF4 and discuss a range of in vitro and in vivo data with the aim of understanding emerging TCF4-specific mechanisms relevant for disease pathophysiology. In conclusion, we provide comments about exciting future avenues of research that may provide insights into potential new therapeutic targets for PTHS.

Publisher

S. Karger AG

Subject

Developmental Neuroscience,Neurology

Reference55 articles.

1. Massari ME, Murre C. Helix-loop-helix proteins: regulators of transcription in eucaryotic organisms. Mol Cell Biol. 2000 Jan;20(2):429–40.

2. Dennis DJ, Han S, Schuurmans C. bHLH transcription factors in neural development, disease, and reprogramming. Brain Res. 2019 Feb 15;1705:48–65.

3. Pitt D, Hopkins I. A syndrome of mental retardation, wide mouth and intermittent overbreathing. Aust Paediatr J. 1978 Sep;14(3):182–4.

4. de Winter CF, Baas M, Bijlsma EK, van Heukelingen J, Routledge S, Hennekam RC. Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. Orphanet J Rare Dis. 2016 Apr 12;11:37.

5. Rosenfeld JA, Leppig K, Ballif BC, Thiese H, Erdie-Lalena C, Bawle E, et al. Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. Genet Med. 2009 Nov;11(11):797–805.

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