Osteogenesis imperfecta is a genetic disorder characterized by low bone mass, decreased
bone strength, increased bone fragility, and shortened stature. Autosomal dominant
osteogenesis imperfecta is caused by mutations in the type I collagen genes (COL1A1 and
COL1A2), whereas recessive osteogenesis imperfecta is caused by mutations in genes
encoding proteins involved in collagen modification (CRTAP, LEPRE1, PPIB), processing
(BMP1), or folding (SERPINH1, FKBP10), as well as in SERPINF1, the mechanism for which …

Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of
inherited connective tissue disorders that share similar skeletal abnormalities causing bone
fragility and deformity. Previously, the disorder was thought to be an autosomal dominant
bone dysplasia caused by defects in type I collagen, but in the past 10 years discoveries of
novel (mainly recessive) causative genes have lent support to a predominantly collagen-
related pathophysiology and have contributed to an improved understanding of normal bone …