col1a1 gene osteogenesis imperfecta

osteogenesis imperfecta, COL1A1, COL1A2, blue sclera Type I OI is an autosomal dominant disease that is referred to as the mild type. Additionally, the COL1A1 gene has preliminary evidence supporting a correlation with autosomal recessive Ehlers-Danlos syndrome (PMID: 27023906). Key Terms. 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. The collagen genes play a role in how the body makes collagen, a material that helps to strengthen the bones. The classic features of type I OI include bone fragility and bluish sclera. 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. 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). Genetic and Clinical Features of Osteogenesis Imperfecta Type I OI. Type I OI results from null mutations (no functional protein) in the COL1A1 gene.

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