ArticleAmerican journal of human genetics2007
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 147 papers, 2 of them syntheses that pooled it.
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Who cites it
147 citing papers in PubMed, 2 syntheses or guidelines pooled it, 320 citations in OpenAlex.
- Adult brain neurons require continual expression of the schizophrenia-risk gene Tcf4 for structural and functional integrity.Translational psychiatry · 2021Pooled it
- Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.Nature genetics · 2018Pooled it
- Interventions targeting challenges experienced by individuals with Pitt Hopkins syndrome: a scoping review.Orphanet journal of rare diseases · 2026Article
- Integrative transcriptomic analysis reveals novel targets for personalized medicine across seven metastatic breast cancer subtypes.Scientific reports · 2026Article
- Article
- TCF4 at the crest of development: a zebrafish model to explore craniofacial and gastrointestinal defects in Pitt-Hopkins syndrome.Frontiers in cell and developmental biology · 2026Article
- Selective enrichment of TCF4 in GABAergic neurons during postnatal primate development.Frontiers in neuroanatomy · 2026Article
- Juvenile reinstatement of TCF4 in Pitt-Hopkins syndrome model mice reveals a critical window for genetic intervention.bioRxiv : the preprint server for biology · 2025Article
- Positive and Negative Symptoms of Schizophrenia and Polymorphic Variants of theInternational journal of molecular sciences · 2025Article
- Tcf4 Deficiency causes recurrent seizures in mice.Progress in neurobiology · 2025Article
- Review
- An attempt to explain what intrinsically disordered TCF4 does in its spare time when PTHS-related mutations prevent it from doing its job.Cell communication and signaling : CCS · 2025Review
- A genome-wide association study identifies novel genetic variants associated with neck or shoulder pain in the UK biobank (N = 430,193).Pain reports · 2025Article
- The molecular properties of the bHLH TCF4 protein as an intrinsically disordered hub transcription factor.Cell communication and signaling : CCS · 2025Article
- The TCF4 Gene Regulates Apoptosis of Corneal Endothelial Cells in Fuchs Endothelial Corneal Dystrophy.Investigative ophthalmology & visual science · 2025Article
- Pitt-Hopkins syndrome: A case report of mild impairments and musical talents.Translational science of rare diseases · 2025Article
- Targeted sequencing with single-molecule molecular inversion probes highlights a gap in understanding the cause of Fuchs endothelial corneal dystrophy.Molecular vision · 2025Article
- Broadening theChildren (Basel, Switzerland) · 2024Article
- A novel variant in the 3' UTR of the TCF4 gene likely causes Pitt-Hopkins syndrome: a case report.Orphanet journal of rare diseases · 2024Article
- Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.Skeletal muscle · 2024Article
87 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
Abstract
Pitt-Hopkins syndrome (PHS) is a rare syndromic encephalopathy characterized by daily bouts of hyperventilation and a facial gestalt. We report a 1.8-Mb de novo microdeletion on chromosome 18q21.1, identified by array-comparative genomic hybridization in one patient with PHS. We subsequently identified two de novo heterozygous missense mutations of a conserved amino acid in the basic region of the TCF4 gene in three additional subjects with PHS. These findings demonstrate that TCF4 anomalies are responsible for PHS and provide the first evidence of a human disorder related to class I basic helix-loop-helix transcription-factor defects (also known as "E proteins"). Moreover, our data may shed new light on the normal processes underlying autonomic nervous system development and maintenance of an appropriate ventilatory neuronal circuitry.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.