Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

doi:10.1016/j.ajhg.2024.07.016

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Article

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

American journal of human genetics - 5 Sept 2024

Boonsawat Paranchai, Asadollahi Reza, Niedrist Dunja, Steindl Katharina, Begemann Anaïs, Joset Pascal, Bhoj Elizabeth J, Li Dong, Zackai Elaine, Vetro Annalisa, Barba Carmen, Guerrini Renzo, Whalen Sandra, Keren Boris, Khan Amjad, Jing Duan, Palomares Bralo María, Rikeros Orozco Emi, Hao Qin, Schlott Kristiansen Britta, Zheng Bixia, Donnelly Deirdre, Clowes Virginia, Zweier Markus, Papik Michael, Siegel Gabriele, Sabatino Valeria, Mocera Martina, Horn Anselm H C, Sticht Heinrich, Rauch Anita

Abstract excerpt

Zinc and RING finger 3 (ZNRF3) is a negative-feedback regulator of Wnt/β-catenin signaling, which plays an important role in human brain development. Although somatically frequently mutated in cancer, germline variants in ZNRF3 have not been established as causative for neurodevelopmental disorders (NDDs). We identified 12 individuals with ZNRF3 variants and various phenotypes via GeneMatcher/Decipher and...

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Identifiers

PMID: 39168120
DOI: 10.1016/j.ajhg.2024.07.016
PMCID: PMC11393693

Genes

ZNRF3

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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