More severe phenotype of early ‐onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A

ConclusionSevere forms of EOOP may occur with carriage of 2 pathogenic variants in genes encoding regulators of the Wnt signaling pathway. Two ‐variant carriers of Wnt pathway genes had severe EOOP. Moreover,DKK1 andWNT3A genes should be included in next ‐generation sequence analyses of bone fragility.

Source: Molecular Genetics & Genomic Medicine - May 4, 2021 Category: Genetics & Stem Cells Authors: Caroline Caetano da Silva, Manon Ricquebourg, Philippe Orcel, St éphanie Fabre, Thomas Funck‐Brentano, Martine Cohen‐Solal, Corinne Collet Tags: ORIGINAL ARTICLE Source Type: research