Somatic activating mutations in MAP2K1 cause melorheostosis

Deep Exome Sequencing by Otogenetics for Clinical Researchers leads to discovery of key somatic mutations in MAP2K1 in melorheostotic* bones of patients. (*Melorheosis is characterized by excess bone formation on the surface of the bone. The bone overgrowth lesions are associated with pain, functional impairment, joint contracture, and deformity.)

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