Article
Somatic activating mutations in MAP2K1 cause melorheostosis.
Nature communications - 11 Apr 2018
Kang Heeseog, Jha Smita, Deng Zuoming, Fratzl-Zelman Nadja, Cabral Wayne A, Ivovic Aleksandra, Meylan Françoise, Hanson Eric P, Lange Eileen, Katz James, Roschger Paul, Klaushofer Klaus, Cowen Edward W, Siegel Richard M, Marini Joan C, Bhattacharyya Timothy
Abstract excerpt
Melorheostosis is a sporadic disease of uncertain etiology characterized by asymmetric bone overgrowth and functional impairment. Using whole exome sequencing, we identify somatic mosaic MAP2K1 mutations in affected, but not unaffected, bone of eight unrelated patients with melorheostosis. The activating mutations (Q56P, K57E and K57N) cluster tightly in the MEK1 negative regulatory domain. Affected bone displays...
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