MUTATIONS AND POLYMORPHISMS OF HDAC4

摘要

This invention relates generally to the analytical testing of tissue samples in vitro, and more particularly to aspects of genetic polymorphisms and mutations of the HDAC4 gene. The invention provides new HDAC4 mutations and SNPs, useful in the diagnosis and treatment of subjects in need thereof. Accordingly, the various aspects of the present invention relate to polynucleotides encoding the HDAC4 mutations of the invention, expression vectors encoding the HDAC4 mutant polypeptides of the invention and organisms that express the HDAC4 mutant and polymorphic polynucleotides and/or HDAC4 mutant/polymorphic polypeptides of the invention. The various aspects of the present invention further relate to diagnostic/theranostic methods and kits that use the HDAC4 mutations and polymorphisms of the invention to identify individuals predisposed to disease or to classify individuals with regard to drug responsiveness, side effects, or optimal drug dose.