Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.

PloS one - 1 Jan 2014

Zhou Peiran, Liu Yi, Lv Fang, Nie Min, Jiang Yan, Wang Ou, Xia Weibo, Xing Xiaoping, Li Mei

Abstract excerpt

Bruck syndrome (BS) is an extremely rare form of osteogenesis imperfecta characterized by congenital joint contracture, multiple fractures and short stature. We described the phenotypes of BS in two Chinese patients for the first time. The novel compound heterozygous mutations c.764_772dupACGTCCTCC (p.255_257dupHisValLeu) in exon 5 and c.1405G>T (p.Gly469X) in exon 9 of FKBP10 were identified in one proband. The...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arthrogryposis
Share to Child
Share to Connective tissue disorders research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Osteogenesis Imperfecta

Share to Pedigree

Share to Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase

Share to Tacrolimus Binding Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 25238597
DOI: 10.1371/journal.pone.0107594
PMCID: PMC4169569

Genes

FKBP10
PLOD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.PMID 25238597Read ↗

Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.Semantic 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 ↗

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

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

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

Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation.Semantic proximity Read ↗

Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.Semantic proximity Read ↗

Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin.Semantic proximity Read ↗

New insights on the clinical variability of FKBP10 mutations.Semantic proximity Read ↗

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

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

⌁Select a neighboring publication to make it the new centre.