Mutations Preventing Regulated Exon Skipping in Cause Osteofibrous Dysplasia

The periosteum contributes to bone repair and maintenance of cortical bone mass. In contrast to the understanding of bone development within the epiphyseal growth plate, factors that regulate periosteal osteogenesis have not been studied as intensively. Osteofibrous dysplasia (OFD) is a congenital disorder of osteogenesis and is typically sporadic and characterized by radiolucent lesions affecting the cortical bone immediately under the periosteum of the tibia and fibula. We identified germline mutations in MET, encoding a receptor tyrosine kinase, that segregate with an autosomal-dominant form of OFD in three families and a mutation in a fourth affected subject from a simplex family and with bilateral disease.

Source: The American Journal of Human Genetics - December 3, 2015 Category: Genetics & Stem Cells Authors: Mary J. Gray, Peter Kannu, Swarkar Sharma, Christine Neyt, Dongping Zhang, Nandina Paria, Philip B. Daniel, Heather Whetstone, Hans-Georg Sprenger, Philipp Hammerschmidt, Angela Weng, Lucie Dupuis, Rebekah Jobling, Roberto Mendoza-Londono, Michael Dray, Tags: Article Source Type: research