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Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Genetics: autosomal dominant, due to mutations in the gene COL2A1, encoding for collagen 2, the major cartilage matrix protein. The mutations associated with Kniest dysplasia cause in-frame deletions in type 2 collagen, generally located between exons 12 and 24, either by small intragenic deletions or splice site alterations. These deletions lead to shorter monomers of collagen type 2.
Severe osteoporosis in a premenopausal woman
Published in Scandinavian Journal of Rheumatology, 2019
Type II collagen provides strength to the structure and integrity of connective tissues such as muscles, joints, and skin. Collagen type II mutations are expressed in clinical syndromes called collagenopathies, which include achondrogenesis, spondyloepiphyseal dysplasia, Kniest dysplasia, and Stickler’s syndrome. Apart from severe osteoporosis and vertebral fractures, our patient did not express other characteristics of the above syndromes, such as facial deformities, short stature, deformed arms and legs, barrel-shaped chest, or hearing or visual losses. Given that the patient’s father had a history of severe osteoporosis and spontaneous fractures without an identifiable underlying cause, it is suspected that the patient’s pathology may be due to a genetic collagen defect transmitted from her father with an autosomal dominant trait. This phenotype of the collagen II mutation has not been previously correlated with only severe osteoporosis or osteogenesis imperfecta. We present this case to alert the medical community to the association of a collagen II mutation with severe osteoporosis in a young woman, without underlying causes such as alcoholism, heavy smoking, or endocrine, metabolic, or malabsorption disorders. The patient was placed on bisphosphonates (alendronate 35 mg/week), along with calcium and cholecalciferol supplementation to treat the severe osteoporosis.