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

PLoS One. 2014 Sep 19;9(9):e107594. doi: 10.1371/journal.pone.0107594. eCollection 2014.

Abstract

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 novel compound heterozygous mutations c.1624delT (p.Tyr542Thrfs*18) in exon 14 and c.1880T>C (p.Val627Ala) in exon 17 of PLOD2 were identified in another probrand. Intravenous zoledronate was a potent agent for these patients, confirmed the efficacy of bisphosphonates on this disease. In conclusion, the novel causative mutations identified in the patients expand the genotypic spectrum of BS.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Arthrogryposis / genetics*
  • Arthrogryposis / pathology
  • Child
  • Humans
  • Male
  • Mutation*
  • Osteogenesis Imperfecta / genetics*
  • Osteogenesis Imperfecta / pathology
  • Pedigree
  • Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / genetics*
  • Tacrolimus Binding Proteins / genetics*

Substances

  • PLOD2 protein, human
  • Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase
  • Tacrolimus Binding Proteins
  • FKBP10 protein, human

Supplementary concepts

  • Bruck syndrome 1

Grants and funding

This study was supported by the National Natural Science Foundation of China (81100623) and National Key Program of Clinical Science. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.