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Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis.

Genes - 28 Dec 2021

Huybrechts Yentl, Boudin Eveline, Hendrickx Gretl, Steenackers Ellen, Hamdy Neveen, Mortier Geert, Martínez Díaz-Guerra Guillermo, Bracamonte Milagros Sierra, Appelman-Dijkstra Natasha M, Van Hul Wim

Abstract excerpt

Sclerosteosis is a high bone mass disorder, caused by pathogenic variants in the genes encoding sclerostin or LRP4. Both proteins form a complex that strongly inhibits canonical WNT signaling activity, a pathway of major importance in bone formation. So far, all reported disease-causing variants are located in the third β-propeller domain of LRP4, which is essential for the interaction with sclerostin. Here, we...

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Identifiers

PMID: 35052419
DOI: 10.3390/genes13010080
PMCID: PMC8774882

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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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