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Gene of the Issue

MYH9 gene mutations associated with bleeding

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Pages 312-315 | Received 23 Jan 2017, Accepted 05 Feb 2017, Published online: 03 Apr 2017

References

  • Balduini CL, Pecci A, Savoia A. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol 2011;154:161–174..
  • Pecci A, Klersy C, Gresele P, Lee KJD, De Rocco D, Bozzi V, Russo G, Heller P., Loffredo, G., Ballmaier, M, et al. MYH9-related disease: A novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat 2014;35:236–247.
  • Pecci A, Biino G, Fierro T, Bozzi V, Mezzasoma A, Noris P, Ramenghi U, Loffredo G, Fabris F, Momi S, et al. Alteration of liver enzymes is a feature of the Myh9-related disease syndrome. Plos One 2012;7.
  • De Rocco D, Pujol-Moix N, Pecci A, Faletra F, Bozzi V, Balduini CL, Savoia A. Identification of the first duplication in MYH9-related disease: A hot spot for unequal crossing-over within exon 24 of the MYH9 gene. Eur J Medi Genet 2009;52:191–194.
  • Savoia A, De Rocco D, Panza E, Bozzi V, Scandellari R, Loffredo G, Mumford A, Heller PG, Noris P, De Groot MR, et al. Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. Thromb Haemost 2010;103:826–832.
  • Kitamura K, Yoshida K, Shiraishi Y, Chiba K, Tanaka H, Furukawa K, Miyano S, Ogawa S, Kunishima S. Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders. J Thromb Haemost 2013;11:2071–2073.
  • Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V, Gresele P, Lethagen S, Fabris F, Dufour C, et al. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat 2008;29:409–417.
  • Verver E, Pecci A, De Rocco D, Ryhanen S, Barozzi S, Kunst H, Topsakal V, Savoia A. R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. Clin Genet 2015; 88:85–89.
  • Pecci A, Gresele P, Klersy C, Savoia A, Noris P, Fierro T, Bozzi V, Mezzasoma AM, Melazzini F, Balduini CL. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood 2010;116:5832–5837.
  • Favier R, Feriel J, Favier M, Denoyelle F, Martignetti JA. First successful use of eltrombopag before surgery in a child with MYH9-related thrombocytopenia. Pediatrics 2013;132:e793–e795.
  • Jang MJ, Park HJ, Chong SY, Huh JY, Kim IH, Jang JH, Kim HJ, Oh D. A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly. Yonsei Med J 2012;53:662–666.
  • Saposnik B, Binard S, Fenneteau O, Nurden A, Nurden P, Hurtaud-Roux MF, Schlegel N. Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders. Mol Genet Genomic Med 2014; 2:297–312.
  • De Rocco D, Zieger B, Platokouki H, Heller PG, Pastore A, Bottega R, Noris P, Barozzi S, Glembotsky AC, Pergantou H, et al. MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations. Eur J MedGenet 2013;56:7–12.
  • Yoshimi A, Toya T, Nannya Y, Takaoka K, Kirito K, Ito E, Nakajima H, Hayashi Y, Takahashi T, Moriya-Saito A, et al. (2016) Spectrum of clinical and genetic features of patients with inherited platelet disorder with suspected predisposition to hematological malignancies: A nationwide survey in Japan. Ann Oncol 2016;27:887–895.
  • Kanematsu T, Suzuki N, Yoshida T, Kishimoto M, Aoki T, Ogawa M, Kagami Y, Kiyoi,H, Matsushita T, Kunishima S. A case of MYH9 disorders caused by a novel mutation(p.K74E). Ann Hematol 2016;95:161–163.
  • Ishida M, Mori Y, Ota N, Inaba T, Kunishima S. Association of a novel in-frame deletion mutation of the MYH9 gene with end-stage renal failure: case report and review of the literature. Clin Nephrol 2013;80:218–222.
  • Kunishima S, Tomii T, Kudo K, Saito H. G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets: Comment on “A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton” by Vettore et al. Eur J Med Genet 2012;55:763–765.
  • Sun XH, Wang ZY, Yang HY, Cao LJ, Su J, Yu ZQ, Bai X, Ruan CG. Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease. Acta Haematol 2013;29:106–113..

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