Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta.

CONCLUSIONS: We report for the first time that the novel pathogenic mutations in BMP1 can lead to the extremely rare OI type XIII, which exhibit unique characters of high bone mass, but with impaired bone microstructure and comprised bone strength. Alendronate is beneficial in increasing bone mineral density and decreasing bone resorption biomarkers, but concerns still remain whether it can reduce fracture incidence in this rare type of OI.
PMID: 30408480 [PubMed - as supplied by publisher]

Source: International Journal of Clinical Chemistry - November 5, 2018 Category: Chemistry Authors: Xu XJ, Lv F, Song YW, Li LJ, Asan, Wei XX, Zhao XL, Jiang Y, Wang O, Xing XP, Xia WB, Li M Tags: Clin Chim Acta Source Type: research