Bruck syndrome (BS)

Last edited 11/2018

Bruck syndrome (BS) is a very rare syndrome in which bone fragility is associated with congenital joint contractures

• a rare autosomal recessive form of osteogenesis imperfecta (OI), which is mainly characterized by joint contractures and recurrent fragility fractures
  • mutations in FKBP10 and PLOD2 were identified as the underlying genetic defects of Bruck syndrome (1)
    
    
• Bruck syndrome was first reported by Dr. Bruck in 1897
  
  
• Viljoen et al. in 1989 reported five children with multiple fractures and congenital joint contractures, and they suggested that this disorder be named Bruck syndrome
  
  
• FKBP10 mutation causes phenotype heterogeneity
  • is a cause of osteogenesis imperfecta with different severities and also a cause of BS
    
    
• FKBP10 gene has been located on chromosome 17q21.2
  • protein is known as a molecular chaperone and is located in the endoplasmic reticulum
  • ability of FK506 Binding Protein 10 (FKBP10) to act as a collagen chaperone justifies its role in the pathogenesis of osteogenesis imperfecta
  • mutations in FKBP10 have been detected in a few BS patients
    • FKBP10 mutation is associated with phenotype heterogeneity

Reference:

• Lv F et al. Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.Calcif Tissue Int. 2018 Mar;102(3):296-309
• Datta V, Sinha A, Saili A et al. Bruck syndrome. Indian J Pediatr 2005; 72: 441-442.
• Viljoen D, Versfeld G, Beighton P. Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). Clin Genet 1989; 36: 122-126.
• Bruck A. Multiple fractures associated with joint ankylosis and muscle atrophy. Dtsch Med Wochenschr 1897; 23: 152-155.
• Alanay Y, Avaygan H, Camacho N et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 2010; 86: 551-559.