A novel MYH9 mutation in a patient with MYH9 disorders and platelet size-specific effect of romiplostim on macrothrombocytopenia
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MYH9 disorders are characterized by macrothrombocytopenia, leukocyte inclusion bodies, and Alport manifestations including nephropathy, deafness, and cataract, all of which derive from mutations of the MYH9 gene encoding nonmuscle myosin heavy chain IIA (NMMHC-IIA) . The severity of Alport manifestations observed in patients with MYH9 disorders generally depends on mutation sites of MYH9 gene and such a genotype-phenotype relationship has been constructed and extended by a series of case reports [2, 3]. We report here a patient with MYH9 disorders carrying a novel MYH9 mutation. In addition, we report the platelet size-specific effect of romiplostim on macrothrombocytopenia during the treatment for neurosurgery with romiplostim.
KeywordsCataract Myosin Heavy Chain Coiled Coil Romiplostim Myosin Filament
Conflict of interest
The authors declare that they have no conflict of interest.
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