Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients |
| |
| Authors: | Peiran Zhou Yi Liu Fang Lv Min Nie Yan Jiang Ou Wang Weibo Xia Xiaoping Xing Mei Li |
| |
| Affiliation: | Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.; Innsbruck Medical University, Austria, |
| |
| 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. |
| |
| Keywords: | |
|
|
