An investigation into the genetic basis of autosomal recessive Osteogenesis imperfecta (OI) III in a South African family of mixed ancestry

Abstract

Osteogenesis Imperfecta (OI) is a rare skeletal dysplasia that is primarily characterized by bone fragility, recurrent fractures, and bone deformities. Over the years there has been an increase in the number of genes associated with OI. Currently there are twenty causative genes involved in OI spread across an autosomal dominant form, autosomal recessive form, and an X-linked form. Among the different types of OI, the progressively deforming OI, has more than one causative OI gene associated with it, and both AD and AR mode of inheritance. A severe autosomal recessive form of OI type III has been studied in SA for more than 40 years.