May-Hegglin anomaly: Morphologic and clinical manifestations

Clinical Advances in Hematology and Oncology

Volumn 7, Issue 2, 2009, Pages 111-113

  Saito, Hidehiko ^a   Kunishima, Shinji ^b  

^a NAGOYA CENTRAL HOSPITAL   (Japan)

^b Clinical Research Center   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOCAPROIC ACID; ANTIFIBRINOLYTIC AGENT; BLOOD CLOTTING FACTOR 7; MYOSIN HEAVY CHAIN; TRANEXAMIC ACID; MOLECULAR MOTOR; MYH9 PROTEIN, HUMAN;

ANAMNESIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD SMEAR; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; FRAMESHIFT MUTATION; GENE MUTATION; GENOTYPE; HUMAN; IMMUNOFLUORESCENCE; LIFESPAN; MAY HEGGLIN ANOMALY; MEDICAL RESEARCH; MISSENSE MUTATION; MORPHOLOGY; MOSAICISM; NONHUMAN; NONSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PHYSICAL EXAMINATION; PLURIPOTENT STEM CELL; QUALITY OF LIFE; RARE DISEASE; STEM CELL TRANSPLANTATION; THROMBOCYTOPENIA; TREATMENT PLANNING; EXON; GENETICS; GRANULOCYTE; PATHOLOGY;

EXONS; GRANULOCYTES; HUMANS; MOLECULAR MOTOR PROTEINS; MUTATION, MISSENSE; MYOSIN HEAVY CHAINS; THROMBOCYTOPENIA;

EID: 65649136971     PISSN: 15430790     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. May R. Leukocyteneinschlüsse. Dtsch Arch Klin Med. 1909; 96:1-6.
2. Hegglin R. Gleichzeitige konstitutionelle Veränderungen an Neutrophilen und Thrombocyten. Helv Med Acta. 1945;12:439-440.
3. Kelley MJ, Jawien W, Ortel TL, Korczak JF. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nature Genet. 2000;26:106-108.
4. The May-Hegglin/Fechtner Syndrome Consortium. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nature Genet. 2000;26:103-105.
5. Kunishima S, Kojima T, Matsushita T, et al. Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). Blood. 2001;97:1147-1149
6. Kunishima S, Hamaguchi M, Saito H. Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders. Blood. 2008; 111:3015-3023.
7. Kunishima S, Matsushita T, Kojima T, et al. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest. 2003;83:115-122.
8. Heath KE, Campos-Barros A, Toren A, et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet. 2001;69:1033-1045.
9. Kunishima S, Matsushita T, Kojima T, et al. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J Hum Genet. 2001;46:722-729.
10. Seri M, Pecci A, Di Bari F, et al. MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore). 2003;82:203-215.
11. Kunishima S, Matsushita T, Yoshihara T, et al. First description of somatic mosaicism in MYH9 disorders. Br J Haematol. 2005;128:360-365.
12. Kunishima S, Takaki K, Ito Y, H. S. Germinal mosaicism in MYH9 disorders: a family with two affected siblings of normal parents. Br J Haematol. [in press doi:10.1111/j.1365-2141.2009.07584.x]
13. Dong F, Li S, Pujol-Moix N, et al. Genotype-phenotype correlation in MYH9-related thrombocytopenia. Br J Haematol. 2005;130:620-627.
14. Pecci A, Panza E, Pujol-Moix N, et al. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mut. 2008;29:409-417.
15. Kunishima S, Yoshinari M, Nishio H, et al. Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations. Eur J Haematol. 2007;78:220-226.
16. Kunishima S, Saito H. Congenital macrothrombocytopenias. Blood Rev. 2006;20:111-121.
17. Pecci A, Granata A, Fiore CE, Balduini CL. Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). Nephrol Dial Transplant. 2008;23:2690-2692.