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Article

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

American journal of human genetics - 1 May 2007

Zweier Christiane, Peippo Maarit M, Hoyer Juliane, Sousa Sergio, Bottani Armand, Clayton-Smith Jill, Reardon William, Saraiva Jorge, Cabral Alexandra, Gohring Ina, Devriendt Koen, de Ravel Thomy, Bijlsma Emilia K, Hennekam Raoul C M, Orrico Alfredo, Cohen Monika, Dreweke Alexander, Reis Andre, Nurnberg Peter, Rauch Anita

Abstract excerpt

Pitt-Hopkins syndrome is a rarely reported syndrome of so-far-unknown etiology characterized by mental retardation, wide mouth, and intermittent hyperventilation. By molecular karyotyping with GeneChip Human Mapping 100K SNP arrays, we detected a 1.2-Mb deletion on 18q21.2 in one patient. Sequenc...

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Share to Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 18

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Source

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Identifiers

PMID: 17436255
DOI: 10.1086/515583
PMCID: PMC1852727

Genes

TCF4
ASCL1
RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17436255-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).PMID 17436255Read ↗

TCF4 deletions in Pitt-Hopkins Syndrome.Semantic proximity Read ↗

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.Semantic proximity Read ↗

A case of Pitt-Hopkins syndrome with absence of hyperventilation.Semantic proximity Read ↗

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.Semantic proximity Read ↗

Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.Semantic proximity Read ↗

Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.Semantic proximity Read ↗

Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patientsSemantic proximity Read ↗

A case of Pitt-hopkins Syndrome with de novo mutation in TCF4: Clinical features and treatment for epilepsy.Semantic proximity Read ↗

Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.Semantic proximity Read ↗

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.Semantic proximity Read ↗

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