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Article

Genetic Analysis of Pitt-Hopkins Syndrome Caused by a Novel Splicing Variant (c.1146+3A>T) in the TCF4 Gene.

Molecular genetics & genomic medicine - 1 Jun 2026

Shen Wenlong, Zhang Yan, Wu Junjie, Zhao Jue, Lv Yaer, Tang Xiaohua

Abstract excerpt

OBJECTIVE: Pitt-Hopkins Syndrome (PTHS) is a rare genetic disorder primarily caused by TCF4 mutations and involves developmental, intellectual, and physical changes in children. Increased nuchal translucency (NT) has not been associated with TCF4 mutations or PTHS. Here we study the connection between increased NT and a c.1146+3A>T mutation in the TCF4 gene. METHODS: The genetic basis of increased NT in an early...

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Source

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Identifiers

PMID: 42210665
DOI: 10.1002/mgg3.70239
PMCID: PMC13240270

Genes

TCF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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