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

•We identify two novel heterozygous variants in BMP1 in a Chinese family with autosomal-recessive OI.•HR-pQCT revealed high bone mass, but impaired microstructure and comprised strength in patient with BMP1 mutations.•The anti-fracture efficancy of bisphosphonates is unclear in this rare type of OI.