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Article

Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 2 Sept 2024

Kot Alexander, Chun Cora, Martin Jorge H, Wachtell Davis, Hudson David, Weis MaryAnn, Marks Haley, Srivastava Siddharth, Eyre David R, Duran Ivan, Zieba Jennifer, Krakow Deborah

Abstract excerpt

Bruck syndrome is an autosomal recessive form of osteogenesis imperfecta caused by biallelic variants in PLOD2 or FKBP10 and is characterized by joint contractures, bone fragility, short stature, and scoliosis. PLOD2 encodes LH2, which hydroxylates type I collagen telopeptide lysines, a critical step for collagen crosslinking. The Plod2 global knockout mouse model is limited by early embryonic lethality, and...

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Source

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Identifiers

PMID: 39088537
DOI: 10.1093/jbmr/zjae124
PMCID: PMC11371901

Genes

PLOD2
FKBP10

Variants

Provenance

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

Related research

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Research trail→

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Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta.PMID 39088537Read ↗

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.Semantic 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 ↗

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

Clinical Variability Within the PLOD2-Associated Phenotypic Continuum: Three Novel Variants in Four Patients from a Descriptive Case Series.Semantic proximity Read ↗

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

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

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

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

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

Decrease of lysyl hydroxylase 2 activity causes abnormal collagen molecular phenotypes, defective mineralization and compromised mechanical properties of bone.Semantic proximity Read ↗

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 ↗

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.Semantic proximity Read ↗

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