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Article

Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling.

Human molecular genetics - 15 Sept 2016

Houtmeyers Rob, Tchouate Gainkam Olive, Glanville-Jones Hannah A, Van den Bosch Ben, Chappell Anna, Barratt Kristen S, Souopgui Jacob, Tejpar Sabine, Arkell Ruth M

Abstract excerpt

The ZIC2 transcription factor is one of the genes most commonly mutated in Holoprosencephaly (HPE) probands. Studies in cultured cell lines and mice have shown a loss of ZIC2 function is the pathogenic mechanism but the molecular details of this ZIC2 requirement remain elusive. HPE arises when signals that direct morphological and fate changes in the developing brain and facial primordia are not sent or received....

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Source

Identifiers

PMID: 27466203
DOI: 10.1093/hmg/ddw235

Genes

ZIC2
NODAL
SMAD3
FOXA2
SMAD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling.PMID 27466203Read ↗

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.Semantic proximity Read ↗

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Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.Semantic proximity Read ↗

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Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.Semantic proximity Read ↗

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