Osteogenesis Imperfecta (COL1A1), Genetic analysis


Type I collagen accounts for about 80% of the protein content of human bone. Mutations in type I collagen (COL1A1 AND COL1A2) genes cause Osteogenesis Imperfecta (OI), which is characterised by fragility of bone. Severe forms of OI can result in foetal death in utero or shortly after birth. In moderate forms, the affected individuals suffer from hundreds of fractures and permanent deformities of limbs and other bony structures. This disease also affects other tissues that are rich in type I collagen such as the skin, the sclerae of the eyes, and teeth. More than 70 insertion, deletion, and mRNA splicing mutations in the type I pro-collagen genes have been identified so far. The devastating effects of the disease are largely explained by structurally defective chains interfering with the folding and assembly of collagen. COL1A1 mutations are responsible for osteogenesis imperfecta, Ehlers-Danlos syndrome type VII, and osteoporosis.


The test is useful in the diagnosis of OI. The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of disorders characterised by hypermobility of joints and skin abnormalities. More than 11 types of EDS have been defined by clinical, biochemical, and genetic criteria. EDS type VII resulting from type I collagen mutations produces extreme joint laxity, frequently resulting in congenital dislocation of the hips and other large joints.

Sample Type, Quantity & Conditions

3 ml EDTA Whole Blood Room Temperature

Special Precautions

Normal Range

By Report

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