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Article

A novel variant p.Y250C of FZD4 influences Norrine/β-catenin signaling pathway that associates with familial exudative vitreoretinopathy (FEVR).

Scientific reports - 12 Jan 2026

Yang Lisha, Cheng Jingliang, Chen Maomei, Ren Min, Fu Junjiang

Abstract excerpt

Frizzled-4 (FZD4) gene mutation is a known mechanism of familial exudative vitreoretinopathy (FEVR). To establish the pathogenicity of the novel FZD4 mutation c.A749G, functional studies are needed to connect this mutation to the patient's FEVR phenotypes. Fluorescence microscopy and co-immunoprecipitation (Co-IP) techniques were employed to determine the effect of FZD4 mutation on sub-cellular localization and...

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Source

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Identifiers

PMID: 41526591
DOI: 10.1038/s41598-025-34442-0
PMCID: PMC12865002

Genes

FZD4
NDP
LRP5
RSPO1

Variants

Provenance

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

Related research

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A novel variant p.Y250C of FZD4 influences Norrine/β-catenin signaling pathway that associates with familial exudative vitreoretinopathy (FEVR).PMID 41526591Read ↗

Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.Semantic proximity Read ↗

Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway.Semantic proximity Read ↗

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.Semantic proximity Read ↗

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Novel human pathological mutations. Gene symbol: FZD4. Disease: familial exudative vitreoretinopathy.Semantic proximity Read ↗

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Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis.Semantic proximity Read ↗

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

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