MYH9-related disease

Definition:

The autosomal dominant disorders, which are caused by mutation of gene encoding nonmuscle myosin heavy chain 9, May-Hegglin anomaly , Fechtner syndrome(FTNS), and Sebastian syndrome , share the triad of thrombocytopenia, large platelets and characteristic leukocyte inclusions (Dohle-like bodies). Epstein syndrome is clinically identical to FTNS, except Dohle-like bodies have not been described.

References:

[1]. Alessandro Pecci, et al. Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. Hum Mol Genet. 2005 Nov 1;14(21):3169-78. [Content Brief]

[2]. Fan Dong, et al. Genotype-phenotype correlation in MYH9-related thrombocytopenia. Br J Haematol. 2005 Aug;130(4):620-7. [Content Brief]

[3]. Karina Althaus, et al. MYH9-related platelet disorders. Semin Thromb Hemost. 2009 Mar;35(2):189-203. [Content Brief]

[4]. Kathleen Selleng, et al. Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome). Eur J Haematol. 2007 Sep;79(3):263-8. [Content Brief]

[5]. M Seri, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet. 2000 Sep;26(1):103-5. [Content Brief]

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