What+is+Osteogenesis+Imperfecta?

What is Osteogenesis Imperfecta?

Osteogenesis Imperfecta (OI) is a genetic disorder resulting in fragility of bones. As a result, bone fractures and deformities are of higher risk in those patients with the disorder. Those who suffer from OI often suffer from other complications such as respiratory distress, hearing loss, and muscle weakness. Depending on phenotype and genotype, the severity of OI can range from mild to lethal and was originally categorized into 4 different types based on clinical characteristics. As of 2006, there have been more classification types added, Type VI, VII and type VIII (1.). These types have also more recently been found to involve various genotypic differences through autosomal dominant and autosomal recessive genes. The mutations found in these genes result in alterations through frameshifts, nonsense mutations and splicing which influence the appearance between cases. Phenotypically, autosomal recessive traits can be identical to autosomal dominant traits which, genetically, are very different resulting in new arguments in terms of the classifcation of OI. This will be further discussed in the "Classification of OI" link.