Pecci, Alessandro and Panza, Emanuele and De Rocco, Daniela and Pujol-Moix, Núria and Girotto, Giorgia and Podda, Luigi and Paparo, Carmelo and Bozzi, Valeria and Pastore, Annalisa and Balduini, Carlo L. and Seri, Marco and Savoia, Anna (2009) MYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. European Journal of Haematology, Vol. 84 (4), p. 291-297. eISSN 1600-0609. Article.
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MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA. All patients present congenital macrothrombocytopenia and inclusion bodies in neutrophils. Some of them can also develop sensorineural deafness, presenile cataract, and ⁄ or progressive nephropathy leading to end-stage renal failure. We report four families, each with a novel mutation: two missense mutations, in exons 31 and 32, and two out of frame deletions in exon 40. They were associated with no bleeding diathesis, normal, or only slightly reduced platelet count and no extra-hematological manifestations, confirming that alterations of the tail domain cause a mild form of MYH9-RD with no clinically relevant defects.
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