Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.

doi:10.1016/j.ajhg.2020.09.009

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Article

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.

American journal of human genetics - 5 Nov 2020

van Dijk Fleur S, Semler Oliver, Etich Julia, Köhler Anna, Jimenez-Estrada Juan A, Bravenboer Nathalie, Claeys Lauria, Riesebos Elise, Gegic Sejla, Piersma Sander R, Jimenez Connie R, Waisfisz Quinten, Flores Carmen-Lisset, Nevado Julian, Harsevoort Arjan J, Janus Guus J M, Franken Anton A M, van der Sar Astrid M, Meijers-Heijboer Hanne, Heath Karen E, Lapunzina Pablo, Nikkels Peter G J, Santen Gijs W E, Nüchel Julian, Plomann Markus, Wagener Raimund, Rehberg Mirko, Hoyer-Kuhn Heike, Eekhoff Elisabeth M W, Pals Gerard, Mörgelin Matthias, Newstead Simon, Wilson Brian T, Ruiz-Perez Victor L, Maugeri Alessandra, Netzer Christian, Zaucke Frank, Micha Dimitra

Abstract excerpt

Osteogenesis imperfecta (OI) is characterized primarily by susceptibility to fractures with or without bone deformation. OI is genetically heterogeneous: over 20 genetic causes are recognized. We identified bi-allelic pathogenic KDELR2 variants as a cause of OI in four families. KDELR2 encodes KDEL endoplasmic reticulum protein retention receptor 2, which recycles ER-resident proteins with a KDEL-like peptide...

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Identifiers

PMID: 33053334
DOI: 10.1016/j.ajhg.2020.09.009
PMCID: PMC7675035

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