Genetic Diagnosis of Skeletal Dysplasias
This chapter discusses the molecular genetic diagnosis of skeletal dysplasia. Skeletal dysplasias are mentioned to be a distinct group of disorders in which the skeletal abnormalities are caused by an intrinsic derangement in bone development. Among the large number of these disorders are single gene heritable disorders that are relatively rare. Skeletal dysplasia are broadly classified by the function of the defective gene product disorders into genes that encode for proteins, that regulates the normal developmental processes of growth plate chondrocytes and those that encode the matrix components. The classification of skeletal dysplasias according to the gene product of the causative gene helps to narrow down the dysplasias into limited number of working diagnosis. The mutated genes in skeletal dysplasias encode proteins that play a critical role in the growth plate and understanding the role in growth plate function gives important information into the molecular pathology of skeletal dysplasia. This information make it easy to understand the mutation that causes a particular mutation as well as gives clues to the type of genes that might be mutated to cause a skeletal dysplasia phenotype. © 2010 Elsevier Inc. All rights reserved.
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