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Article

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Mar 2011

Kelley Brian P, Malfait Fransiska, Bonafe Luisa, Baldridge Dustin, Homan Erica, Symoens Sofie, Willaert Andy, Elcioglu Nursel, Van Maldergem Lionel, Verellen-Dumoulin Christine, Gillerot Yves, Napierala Dobrawa, Krakow Deborah, Beighton Peter, Superti-Furga Andrea, De Paepe Anne, Lee Brendan

Abstract excerpt

Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis and posttranslational modification of type I collagen. Autosomal dominant OI is caused by mutations in the genes (COL1A1 or COL1A2) encoding the chains of type I col...

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Source

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Identifiers

PMID: 20839288
DOI: 10.1002/jbmr.250
PMCID: PMC3179293

Genes

FKBP10
CRTAP
PLOD2
PPIB
SERPINH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20839288-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.PMID 20839288Read ↗

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.Semantic proximity Read ↗

Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype ofFKBP10 MutationsSemantic proximity Read ↗

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Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.Semantic proximity Read ↗

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Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.Semantic proximity Read ↗

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