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Article

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 31 Dec 2024

Jarayseh Tamara, Debaenst Sophie, De Saffel Hanna, Rosseel Toon, Milazzo Mauro, Bek Jan Willem, Hudson David M, Van Nieuwerburgh Filip, Gansemans Yannick, Josipovic Iván, Boone Matthieu N, Witten P Eckhard, Willaert Andy, Coucke Paul J

Abstract excerpt

Rare monogenic disorders often exhibit significant phenotypic variability among individuals sharing identical genetic mutations. Bruck syndrome (BS), a prime example, is characterized by bone fragility and congenital contractures, although with a pronounced variability among family members. BS arises from recessive biallelic mutations in FKBP10 or PLOD2. FKBP65, the protein encoded by FKBP10, collaborates with...

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Identifiers

PMID: 39566080
DOI: 10.1093/jbmr/zjae185

Genes

FKBP10
PLOD2

Provenance

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

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