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Article

A novel variant in the 3' UTR of the TCF4 gene likely causes Pitt-Hopkins syndrome: a case report.

Orphanet journal of rare diseases - 7 Oct 2024

Zhao Tingting, Yang Fan, Zhang Bingbing, Ren Yongyong, Yuan Jiuzhou, Wang Yu, Lu Hui, Yu Guangjun, Feng Jincai

Abstract excerpt

BACKGROUND: Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder that results from variants of TCF4 gene. PTHS follows an autosomal dominant inheritance pattern and the underlying pathological mechanisms of this disease are still unclear. METHODS: Whole-genome sequencing (WGS) was conducted to screen for potential pathogenic variant in a boy highly suspected of having a genetic disorder. PCR and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39375747
DOI: 10.1186/s13023-024-03383-8
PMCID: PMC11457474

Genes

TCF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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A novel variant in the 3' UTR of the TCF4 gene likely causes Pitt-Hopkins syndrome: a case report.PMID 39375747Read ↗

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