Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

Introduction Osteogenesis imperfecta(OI) is a clinically and genetically heterogeneous disease with skeletal fragilityand variable extra-skeletal manifestations. To date several point mutationsin 18 different genes causing different types of OI have been identified. Mutations in WNT1compromise activity of the osteoblasts leading to disturbed bone mass accrual, fragilityfractures and progressive skeletal abnormalities. The present study was conducted to determine the underlying genetic cause of an autosomal recessive skeletal dysplasia in a large consanguineousfamily from Chinute, Pakistan.