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

doi:10.1186/s13023-016-0439-6

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Article

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

Orphanet journal of rare diseases - 14 May 2016

Maduro Valerie, Pusey Barbara N, Cherukuri Praveen F, Atkins Paul, du Souich Christèle, Rupps Rosemarie, Limbos Marjolaine, Adams David R, Bhatt Samarth S, Eydoux Patrice, Links Amanda E, Lehman Anna, Malicdan May C, Mason Christopher E, Morimoto Marie, Mullikin James C, Sear Andrew, Van Karnebeek Clara, Stankiewicz Pawel, Gahl William A, Toro Camilo, Boerkoel Cornelius F

Abstract excerpt

BACKGROUND: Mutations of TCF4, which encodes a basic helix-loop-helix transcription factor, cause Pitt-Hopkins syndrome (PTHS) via multiple genetic mechanisms. TCF4 is a complex locus expressing multiple transcripts by alternative splicing and use of multiple promoters. To address the relationship between mutation of these transcripts and phenotype, we report a three-generation family segregating mild...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27179618
DOI: 10.1186/s13023-016-0439-6
PMCID: PMC4868023

Genes

TCF4
PLEKHG3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.PMID 27179618Read ↗

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