Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.

doi:10.1016/j.ajhg.2015.07.007

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Article

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.

American journal of human genetics - 3 Sept 2015

Twigg Stephen R F, Forecki Jennifer, Goos Jacqueline A C, Richardson Ivy C A, Hoogeboom A Jeannette M, van den Ouweland Ans M W, Swagemakers Sigrid M A, Lequin Maarten H, Van Antwerp Daniel, McGowan Simon J, Westbury Isabelle, Miller Kerry A, Wall Steven A, van der Spek Peter J, Mathijssen Irene M J, Pauws Erwin, Merzdorf Christa S, Wilkie Andrew O M

Abstract excerpt

Human ZIC1 (zinc finger protein of cerebellum 1), one of five homologs of the Drosophila pair-rule gene odd-paired, encodes a transcription factor previously implicated in vertebrate brain development. Heterozygous deletions of ZIC1 and its nearby paralog ZIC4 on chromosome 3q25.1 are associated with Dandy-Walker malformation of the cerebellum, and loss of the orthologous Zic1 gene in the mouse causes cerebellar...

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Identifiers

PMID: 26340333
DOI: 10.1016/j.ajhg.2015.07.007
PMCID: PMC4564895

Genes

ZIC1
ZIC4

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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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Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.PMID 26340333Read ↗

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Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.Semantic proximity Read ↗

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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 ↗

Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.Semantic proximity Read ↗

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