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Article

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.

American journal of medical genetics. Part A - 15 Aug 2008

Kalscheuer Vera M, Feenstra Ilse, Van Ravenswaaij-Arts Conny M A, Smeets Dominique F C M, Menzel Corinna, Ullmann Reinhard, Musante Luciana, Ropers Hans-Hilger

Abstract excerpt

We have characterized a de novo balanced translocation t(18;20)(q21.1;q11.2) in a female patient with mild to moderate mental retardation (MR) and minor facial anomalies. Breakpoint-mapping by fluorescence in situ hybridization indicated that on chromosome 18, the basic helix-loop-helix transcription factor TCF4 gene is disrupted by the breakpoint. TCF4 plays a role in cell fate determination and differentiation....

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Topics

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Share to Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
Share to Chromosomes, Human, Pair 18

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 20

Share to TCF Transcription Factors

Share to Transcription Factor 4

Share to Transcription Factor 7-Like 2 Protein

Share to Translocation, Genetic

Source

Identifiers

PMID: 18627065
DOI: 10.1002/ajmg.a.32419

Genes

TCF4
CHD6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.PMID 18627065Read ↗

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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 ↗

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Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.Semantic proximity Read ↗

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