novel mutation in SNX10 gene causes malignant infantile osteopetrosis

ABSTRACT

Background: Osteopetrosis is a group of genetically heterogonous diseases and the main feature of that is increased bone density due to osteoclast's abnormality. It has three clinical forms based on inheritance pattern, severity and age of onset the dominant benign form [ADO], the intermediate form [IRO] and the recessive severe form [ARO]. One of the recently discovered genes for ARO form is SNX10 that accounts for 4% of affected persons by this type