Novel mutations in FKBP10 and PLOD2 cause rare bruck syndrome in Chinese Patients

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