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Article

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

Human mutation - 1 Oct 2012

Puig-Hervás Maria Trinidad, Temtamy Samia, Aglan Mona, Valencia Maria, Martínez-Glez Víctor, Ballesta-Martínez María Juliana, López-González Vanesa, Ashour Adel M, Amr Khalda, Pulido Veronica, Guillén-Navarro Encarna, Lapunzina Pablo, Caparrós-Martín José A, Ruiz-Perez Victor L

Abstract excerpt

PLOD2 and FKBP10 are genes mutated in Bruck syndrome (BS), a condition resembling osteogenesis imperfecta (OI), but that is also typically associated with congenital joint contractures. Herein, we sought mutations in six consanguineous BS families and detected changes in either PLOD2 or FKBP10 in all cases. Two probands were found with a homozygous frameshift mutation in the alternative exon 13a of PLOD2,...

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Source

Identifiers

PMID: 22689593
DOI: 10.1002/humu.22133

Genes

PLOD2
FKBP10

Provenance

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

Related research

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Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.PMID 22689593Read ↗

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.Semantic proximity Read ↗

Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.Semantic proximity Read ↗

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Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.Semantic proximity Read ↗

Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.Semantic proximity Read ↗

Cellular and Molecular Effects of the Bruck Syndrome-Associated Mutation in the PLOD2 Gene.Semantic proximity Read ↗

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2Semantic proximity Read ↗

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.Semantic proximity Read ↗

Clinical and genetic landscape of Bruck syndrome in the Indian populationSemantic proximity Read ↗

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutationSemantic proximity Read ↗

Presentation of Rare Phenotypes Associated with the FKBP10 Gene.Semantic proximity Read ↗

Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta.Semantic proximity Read ↗

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