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A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2.

Birth defects research - 15 May 2020

Bukowska-Olech Ewelina, Sowińska-Seidler Anna, Szczałuba Krzysztof, Jamsheer Aleksander

Abstract excerpt

The LRP4 gene encodes the highly conserved low-density lipoprotein receptor-related protein 4 (LRP4), which acts as a co-receptor for sclerostin. Sclerostin and LRP4 negatively regulate WNT/β-catenin signaling pathway and lack of their inhibitory activity leads to constant osteoblastic differentiation. Consequently, increased bone formation occurs, which in the case of LRP4 mutations results in sclerosteosis type...

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PMID: 32286743
DOI: 10.1002/bdr2.1676

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