MYH9 related platelet disorders - Often unknown and misdiagnosed

Klinische Padiatrie

Volumn 223, Issue 3, 2011, Pages 120-125

  Althaus, K ^a   Najm, J ^a   Greinacher, A ^a  

^a UNIVERSITY OF GREIFSWALD   (Germany)

Author keywords

Epstein syndrome; Fechtner syndrome; ITP; macrothrombocytopenia; May Hegglin anomaly; MYH9; platelet; Sebastian platelet syndrome

Indexed keywords

ANGIOTENSIN RECEPTOR ANTAGONIST; CORTICOSTEROID; DESMOPRESSIN; ELTROMBOPAG; IMMUNOGLOBULIN; MOLECULAR MOTOR; NON MUSCULAR MYOSIN HEAVY CHAIN IIA; RENIN INHIBITOR; TRANEXAMIC ACID; UNCLASSIFIED DRUG;

AUTOIMMUNE THROMBOCYTOPENIA; AUTOSOMAL DOMINANT DISORDER; BERNARD SOULIER DISEASE; BLEEDING; BLEEDING TENDENCY; BLOOD CELL COUNT; BLOOD SMEAR; CATARACT; CLINICAL FEATURE; COMORBIDITY; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; FECHTNER SYNDROME; GENE; GENE MUTATION; GRAY PLATELET SYNDROME; HEARING LOSS; HETEROZYGOSITY; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IMMUNOFLUORESCENCE TEST; JACOBSEN SYNDROME; KIDNEY FAILURE; MAY HEGGLIN ANOMALY; MICROSCOPY; MYH9 GENE; NEPHROTIC SYNDROME; NONHUMAN; PROTEINURIA; REVIEW; SEBASTIAN PLATELET SYNDROME; SPLENECTOMY; THROMBOCYTE COUNT; THROMBOCYTE DISORDER; THROMBOCYTOPENIA;

BLOOD PLATELETS; CHILD; CHROMOSOMES, HUMAN, PAIR 22; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; GENES, DOMINANT; HETEROZYGOTE DETECTION; HUMANS; MICROSCOPY, FLUORESCENCE; MOLECULAR MOTOR PROTEINS; MYOSIN HEAVY CHAINS; PEDIGREE; SOFTWARE DESIGN; SYNDROME; THROMBOCYTOPENIA;

EID: 79956080610     PISSN: 03008630     EISSN: 14393824     Source Type: Journal    
DOI: 10.1055/s-0031-1275664     Document Type: Review

References (31)

1. Althaus K, Najm J, Blumentritt C et al,. MYH9 disorders revisited morphology of leukocyte inclusion bodies predicts the position of mutation. Hämostaseologie 31[1/2011], A32 2011 Ref Type: Abstract
2. Anand A, Feffer SE. Hematocrit and bleeding time: an update. South Med J 1994 87 299-301 (Pubitemid 24098274)
3. Anderson NM, Berndl E, Berberovic Z et al,. Myh9Q1443L Is a Novel Mouse Model of MYH9-Related Disorders. ASH Annual Meeting Abstracts 2010 116 2527
4. Behar DM, Rosset S, Tzur S et al,. African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans. Hum Mol Genet 2010 19 1816-1827
5. Chiquet BT, Hashmi SS, Henry R et al,. Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate. Eur J Hum Genet 2009 17 195-204
6. Epstein CJ, Sahud MA, Piel CF. Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med 1972 299-310
7. Fabbro S, Kahr WH, Hinckley J et al,. Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. Blood 2011 epubl
8. Greinacher A, Nieuwenhuis HK, White JG. Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. Blut 1990 61 282-288
9. 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 (Pubitemid 33015818)
10. Hegglin R. Gleichzeitige konstitutionelle Veränderungen an Neutrophilen und Thrombozyten. Helv Med Acta 1945 439-440
11. Heller PG, Pecci A, Glembotsky AC et al,. Unexplained recurrent venous thrombosis in a patient with MYH9-related disease. Platelets 2006 17 274-275 (Pubitemid 43890799)
12. 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 (Pubitemid 32154308)
13. Lalwani AK, Goldstein JA, Kelley MJ et al,. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet 2000 67 1121-1128
14. Leung TF, Tsoi WC, Li CK et al,. A Chinese adolescent girl with Fechtner-like syndrome. Acta Paediatr 1998 87 705-707 (Pubitemid 28331063)
15. Marigo V, Nigro A, Pecci A et al,. Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains. Genomics 2004 83 1125-1133 (Pubitemid 38728990)
16. Maupin P, Phillips CL, Adelstein RS et al,. Differential localization of myosin-II isozymes in human cultured cells and blood cells. J Cell Sci 1994 107 Pt 11 3077-3090 (Pubitemid 24365211)
17. May R. Leukozyteneinschlüsse. Dtch Arc Klin Med 1909 96 1-6
18. Mhatre AN, Li Y, Bhatia N et al,. Generation and characterization of mice with Myh9 deficiency. Neuromolecular Med 2007 9 205-215 (Pubitemid 350129696)
19. Mori K, Suzuki S, Sugai K et al,. Morphological changes of platelets during the process of platelet aggregation in gray platelet syndrome. Tohoku J Exp Med 1986 149 425-436 (Pubitemid 17195543)
20. Nurden AT, Fiore M, Pillois X et al,. Genetic testing in the diagnostic evaluation of inherited platelet disorders. Semin Thromb Hemost 2009 35 204-212
21. Nurden AT, Nurden P. The gray platelet syndrome: clinical spectrum of the disease. Blood Rev 2007 21 21-36 (Pubitemid 46097190)
22. Pecci A, Granata A, Fiore CE et al,. 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
23. Pecci A, Gresele P, Klersy C et al,. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood 2010 116 5832-5837
24. 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 Mutat 2008 29 409-417 (Pubitemid 351364943)
25. Peterson LC, Rao KV, Crosson JT et al,. Fechtner syndrome a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. Blood 1985 65 397-406 (Pubitemid 15163578)
26. Raslova H, Komura E, Le Couedic JP et al,. FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J Clin Invest 2004 114 77-84 (Pubitemid 39071646)
27. Savoia A, Balduini A. MYH9 -Related Disorders. Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet] Seattle (WA) University of Washington, Seattle 19932008 Nov 20 [updated 2009 Jun 25]. 2008
28. Selleng K, Lubenow LE, Greinacher A et al,. Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome). Eur J Haematol 2007 79 263-268 (Pubitemid 47231172)
29. Suzuki N, Kunishima S, Ikejiri M et al,. R702C Mutation of the MYH9 Gene Provokes Impaired Platelet Formation, Renal Focal Segmental Glomerulosclerosis, and Hearing Disability In the Mice Model. ASH Annual Meeting Abstracts 2010 116 482
30. Toren A, Rozenfeld-Granot G, Rocca B et al,. Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13. Blood 2000 96 3447-3451
31. White JG. Platelet pathology in carriers of the X-linked GATA-1 macrothrombocytopenia. Platelets 2007 18 620-627 (Pubitemid 350179045)