col1a1 gene osteogenesis imperfecta

The classic features of type I OI include bone fragility and bluish sclera. Additionally, the COL1A1 gene has preliminary evidence supporting a correlation with autosomal recessive Ehlers-Danlos syndrome (PMID: 27023906). As osteogenesis imperfecta is a disease due to a genetic mutation, children of parents with known osteogenesis imperfecta are at higher risk of having the disease. osteogenesis imperfecta, COL1A1, COL1A2, blue sclera Osteogenesis imperfecta (OI) may be caused by changes (mutations) in any of several genes.OI is most commonly due to a variation (mutation) in either the collagen genes COL1A1 or COL1A2 gene, which cause OI types I through IV. Type I OI is an autosomal dominant disease that is referred to as the mild type. Type I OI results from null mutations (no functional protein) in the COL1A1 gene. The COL1A1 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246), Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662), and Caffey disease (PMID: 24389367). The collagen genes play a role in how the body makes collagen, a material that helps to strengthen the bones. Key Terms. Genetic and Clinical Features of Osteogenesis Imperfecta Type I OI.