Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort

Nature·May 12

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Researchers have found a link between reduced penetrance of COL1A1/2 pathogenic variants and osteogenesis imperfecta in a large population cohort. The condition appears to be associated with various genetic mutations, including those in the COL1A1, WNT1, and COL2A1 genes. The relationship between these genetic factors and osteogenesis imperfecta is being further explored through studies, including analyses of population cohorts and individual cases with distinct mutations.

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