Bruck syndrome 2
Bruck syndrome 2 (BRKS2; MIM 609220) is an autosomal recessively inherited disorder characterized by congenital joint contractures and multiple fractures in infancy and childhood. Additional findings include kyphoscoliosis, pectus, short stature, angular deformities of long bones, persistent osteopenia, pterygia, and clubfoot. The fracture frequency decreases with skeletal maturity but the spine deformities are progressive.
Bruck syndrome 2 (BRKS2; MIM 609220) is an autosomal recessively inherited disorder characterized by congenital joint contractures and multiple fractures in infancy and childhood. Additional findings include kyphoscoliosis, pectus, short stature, angular deformities of long bones, persistent osteopenia, pterygia, and clubfoot. The fracture frequency decreases with skeletal maturity but the spine deformities are progressive. The differential diagnosis includes arthrogryposis multiplex congenita, osteogenesis imperfecta types III and IV, recessively inherited osteogenesis imperfecta (MIM 610854 / 610682 / 610915), and congenital contractural arachnodactyly (CCA; MIM 121050). Bruck syndrome 2 is caused by mutations in the PLOD2 gene encoding lysyl hydroxylase 2. Bruck syndrome 1 (BRKS1; MIM 259450) is phenotypically similar to BRKS2. BRKS1 is an autosomal recessive disorder caused by mutations in the FKBP10 gene. Mutations in this gene also cause osteogenesis imperfecta, type XI (MIM 610968)
Gene(s)
Disease Group
MIM
Methodology
Billing
Ordering
Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Fibroblasts: 2 confluent T-25 flasks
Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
