Genetics of familial forms of thrombocytopenia

Human Genetics

Volumn 131, Issue 12, 2012, Pages 1821-1832

  Balduini, Carlo L ^a,b   Savoia, Anna ^c  

^a UNIVERSITY OF PAVIA   (Italy)

^b FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^c UNIVERSITY OF TRIESTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN IB; TRANSCRIPTION FACTOR GATA 1;

ALLELE; AUTOSOMAL RECESSIVE DISORDER; BERNARD SOULIER DISEASE; CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA; CONGENITAL DYSERYTHROPOIETIC ANEMIA; GENE IDENTIFICATION; GENE MUTATION; GRAY PLATELET SYNDROME; HEREDITY; HUMAN; JACOBSEN SYNDROME; PRIORITY JOURNAL; RADIOULNAR SYNOSTOSIS; REVIEW; SYNOSTOSIS; THALASSEMIA; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; THROMBOCYTOPENIA; VON WILLEBRAND DISEASE; WISKOTT ALDRICH SYNDROME;

ANKYRIN REPEAT; ATP-BINDING CASSETTE TRANSPORTERS; BERNARD-SOULIER SYNDROME; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CONTRACTILE PROTEINS; GATA1 TRANSCRIPTION FACTOR; GENETIC DISEASES, X-LINKED; GRAY PLATELET SYNDROME; HUMANS; INTEGRINS; JACOBSEN DISTAL 11Q DELETION SYNDROME; MICROFILAMENT PROTEINS; MOLECULAR MOTOR PROTEINS; MUTATION; MYOSIN HEAVY CHAINS; PLATELET MEMBRANE GLYCOPROTEINS; THROMBOCYTOPENIA; VON WILLEBRAND DISEASES; WISKOTT-ALDRICH SYNDROME;

EID: 84871010763     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-012-1215-x     Document Type: Review

References (89)

1. Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, Read RJ, Sipos B, Sivapalaratnam S, Smethurst PA, Stephens J, Voss K, Nurden A, Rendon A, Nurden P, Ouwehand WH (2011) Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet 43:735-737
2. Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, Jolley JD, Cvejic A, Kostadima M, Bertone P, Breuning MH, Debili N, Deloukas P, Favier R, Fiedler J, Hobbs CM, Huang N, Hurles ME, Kiddle G, Krapels I, Nurden P, Ruivenkamp CA, Sambrook JG, Smith K, Stemple DL, Strauss G, Thys C, van Geet C, Newbury-Ecob R, Ouwehand WH, Ghevaert C (2012) Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet 44:435-439
3. Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, Espanol T, Fasth A, Pellier I, Strauss G, Morio T, Gathmann B, Noordzij JG, Fillat C, Hoenig M, Nathrath M, Meindl A, Pagel P, Wintergerst U, Fischer A, Thrasher AJ, Belohradsky BH, Ochs HD (2010) X-linked thrombocytopenia (XLT) due to WAS mutations: Clinical characteristics, long-term outcome, and treatment options. Blood 115:3231-3238
4. Balduini CL, Pecci A, Loffredo G, Izzo P, Noris P, Grosso M, Bergamaschi G, Rosti V, Magrini U, Ceresa IF, Conti V, Poggi V, Savoia A (2004) Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis. Thromb Haemost 91:129-140
5. Balduini A, Pallotta I, Malara A, Lova P, Pecci A, Viarengo G, Balduini CL, Torti M (2008) Adhesive receptors, extracellular proteins and myosin IIA orchestrate proplatelet formation by human megakaryocytes. J Thromb Haemost 6:1900-1907
6. Balduini A, Malara A, Pecci A, Badalucco S, Bozzi V, Pallotta I, Noris P, Torti M, Balduini CL (2009) Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano. J Thromb Haemost 7:478-484
7. Balduini CL, Pecci A, Savoia A (2011) Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol 154:161-174
8. Ballmaier M, Germeshausen M (2011) Congenital amegakaryocytic thrombocytopenia: Clinical presentation, diagnosis, and treatment. Semin Thromb Hemost 37:673-681
9. Béri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P, Roth V, Grégoire MJ, Bordigoni P, Lecompte T, Leheup B, Jonveaux P (2008) Clinical phenotype of germline RUNX1 haploinsufficiency: From point mutations to large genomic deletions. Eur J Hum Genet 16:1014-1018
10. Bernard J, Soulier JP (1948) Sur une nouvelle variete de dystrphie thrombocytaire-hemorragipare congenitale. Sem Hop Paris 24:3217-3223
11. Camitta BM, Rock A (1993) Acute lymphoidic leukemia in a patient with thrombocytopenia/absent radii (Tar) syndrome. Am J Pediatr Hematol Oncol 15:335-337
12. Canales ML, Mauer AM (1967) Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome. N Engl J Med 277:899-901
13. Castillo-Caro P, Dhanraj S, Haut P, Robertson K, Dror Y, Sharathkumar AA (2010) Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation. J Pediatr Hematol Oncol 32:479-485
14. Chen Z, Naveiras O, Balduini A, Mammoto A, Conti MA, Adelstein RS, Ingber D, Daley GQ, Shivdasani RA (2007) The May anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway. Blood 110:171-179
15. Ciovacco WA, Raskind WH, Kacena MA (2008) Human phenotypes associated with GATA-1 mutations. Gene 427:1-6
16. Cohen MM Jr (2009) Perspectives on RUNX genes: An update. Am J Med Genet A 149A:2629-2646
17. Davis B, Toivio-Kinnucan M, Schuller S, Boudreaux MK (2008) Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels. J Vet Intern Med 22:540-545
18. Drachman JG, Jarvik GP, Mehaffey MG (2000) Autosomal dominant thrombocytopenia: Incomplete megakaryocyte differentiation and linkage to human chromosome 10. Blood 96:118-125
19. Ducrou W, Kimber RJ (1969) Stomatocytes, haemolytic anaemia and abdominal pain in Mediterranean migrants. Some examples of a new syndrome? Med J Aust 2:1087-1091
20. Fabbro S, Kahr WH, Hinckley J, Wang K, Moseley J, Ryu GY, Nixon B, White JG, Bair T, Schutte B, Di Paola J (2011) Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. Blood 117:3430-3434
21. Fadoo Z, Naqvi SM (2002) Acute myeloid leukemia in a patient with thrombocytopenia with absent radii syndrome. J Pediatr Hematol Oncol 24:134-135
22. Favier R, Jondeau K, Boutard P, Grossfeld P, Reinert P, Jones C, Bertoni F, Cramer EM (2003) Paris-Trousseau syndrome: Clinical, hematological, molecular data of ten new cases. Thromb Haemost 90:893-897
23. Fox N, Priestley G, Papayannopoulou T, Kaushansky K (2002) Thrombopoietin expands hematopoietic stem cells after transplantation. J Clin Invest 110:389-394
24. Gandhi MJ, Cummings CL, Drachman JG (2003) FLJ14813 missense mutation: A candidate for autosomal dominant thrombocytopenia on human chromosome 10. Hum Hered 55:66-70
25. Geddis AE (2009) Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. Hematol Oncol Clin North Am 23:321-331
26. Ghevaert C, Salsmann A, Watkins NA, Schaffner-Reckinger E, Rankin A, Garner SF, Stephens J, Smith GA, Debili N, Vainchenker W, de Groot PG, Huntington JA, Laffan M, Kieffer N, Ouwehand WH (2008) A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia. Blood 111:3407-3414
27. Goodeve AC (2010) The genetic basis of von Willebrand disease. Blood Rev 24:123-134
28. Gresele P, Falcinelli E, Giannini S, D'Adamo P, D'Eustacchio A, Corazzi T, Mezzasoma AM, Di Bari F, Guglielmini G, Cecchetti L, Noris P, Balduini CL, Savoia A (2009) Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families. Haematologica 94:663-669
29. Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C (2004) The 11q terminal deletion disorder: A prospective study of 110 cases. Am J Med Genet A 129A:51-61
30. Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Burgos M, Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P, Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen NF, Cherukuri PF, Jones M, Cruz P, Mullikin JC, Nurden A, White JG, Gahl WA, Falik-Zaccai T (2010) Gray platelet syndrome: Natural history of a large patient cohort and locus assignment to chromosome 3p. Blood 116:4990-5001
31. Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA (2011) NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet agranules. Nat Genet 43:732-734
32. Hamilton A, Ozelo M, Leggo J, Notley C, Brown H, Frontroth JP, Angelillo-Scherrer A, Baghaei F, Enayat SM, Favaloro E, Lillicrap D, Othman M (2011) Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study. Thromb Haemost 105:501-508
33. Houeijeh A, Andrieux J, Saugier-Veber P, David A, Goldenberg A, Bonneau D, Fouassier M, Journel H, Martinovic J, Escande F, Devisme L, Bisiaux S, Chaffiotte C, Baux M, Kerckaert JP, Holder-Espinasse M, Manouvrier-Hanu S (2011) Thrombocytopenia-absent radius (TAR) syndrome: A clinical genetic series of 14 further cases. Impact of the associated 1q21.1 deletion on the genetic counselling. Eur J Med Genet 54:e471-e477
34. Ihara K, Ishii E, Eguchi M, Takada H, Suminoe A, Good RA, Hara T (1999) Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. Proc Natl Acad Sci USA 96:3132-3136
35. Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J (1973) An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum Hered 23:568-585
36. Jayo A, Conde I, Lastres P, Martínez C, Rivera J, Vicente V, González-Manchón C (2010) L718P mutation in the membraneproximal cytoplasmic tail of beta 3 promotes abnormal alpha IIb beta 3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype. Haematologica 95:1158-1166
37. Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM, Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola J (2011) Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet 43:738-740
38. Kidambi S, Patel SB (2008) Sitosterolaemia: Pathophysiology, clinical presentation and laboratory diagnosis. J Clin Pathol 61:588-594
39. Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, Konig R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S (2007) Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet 80:232-240
40. Kunishima S, Imai T, Hamaguchi M, Saito H (2006) Novel heterozygous missense mutation in the second leucine rich repeat of GPIbalpha affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura. Eur J Haematol 76:348-355
41. Kunishima S, Kobayashi R, Itoh TJ, Hamaguchi M, Saito H (2009) Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. Blood 113:458-461
42. Kunishima S, Kashiwagi H, Otsu M, Takayama N, Eto K, Onodera M, Miyajima Y, Takamatsu Y, Suzumiya J, Matsubara K, Tomiyama Y, Saito H (2011) Heterozygous ITGA2B R995 W mutation inducing constitutive activation of the {alpha}IIb{-beta}3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. Blood 117(20):5479-5484
43. Larson MK, Watson SP (2006) Regulation of proplatelet formation and platelet release by integrin alpha IIb beta3. Blood 108:1509-1514
44. Liang HP, Morel-Kopp MC, Curtin J, Wilson M, Hewson J, Chen W, Ward CM (2007) Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients. Thromb Haemost 98:1298-1308
45. Liew E, Owen CJ (2011) Familial myelodysplastic syndromes: A review of the literature. Haematologica 96:1536-1542
46. Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC (1998) Bernard-Soulier syndrome. Blood 91:4397-4418
47. Luo SZ, Mo X, Afshar-Kharghan V, Srinivasan S, Lopez JA, Li R (2007) Glycoprotein Iba forms disulfide bonds with 2 glycoprotein Ib subunits in the resting platelet. Blood 109:603-609
48. Matheny CJ, Speck ME, Cushing PR, Zhou Y, Corpora T, Regan M, Newman M, Roudaia L, Speck CL, Gu TL, Griffey SM, Bushweller JH, Speck NA (2007) Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. EMBO J 26:1163-1175
49. Mattina T, Perrotta CS, Grossfeld P (2009) Jacobsen syndrome. Orphanet J Rare Dis 4:9
50. Miller JL, Lyle VA, Cunningham D (1992) Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease. Blood 79:439-446
51. Morison IM, Cramer Bordé EM, Cheesman EJ, Cheong PL, Holyoake AJ, Fichelson S, Weeks RJ, Lo A, Davies SM, Wilbanks SM, Fagerlund RD, Ludgate MW, da Silva Tatley FM, Coker MS, Bockett NA, Hughes G, Pippig DA, Smith MP, Capron C, Ledgerwood EC (2008) A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. Nat Genet 40:387-389
52. Noris P, Pecci A, Di Bari F, Di Stazio MT, Di Pumpo M, Ceresa I, Arezzi N, Ambaglio C, Savoia A, Balduini CL (2004) Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. Haematologica 89:1219-1225
53. Noris P, Perrotta S, Seri M, Pecci A, Gnan C, Loffredo G, Pujol-Moix N, Zecca M, Scognamiglio F, De Rocco D, Punzo F, Melazzini F, Scianguetta S, Casale M, Marconi C, Pippucci T, Amendola G, Notarangelo LD, Klersy C, Civaschi E, Balduini CL, Savoia A (2011) Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: Analysis of 78 patients from 21 families. Blood 117:6673-6680
54. Noris P, Perrotta S, Bottega R, Pecci A, Melazzini F, Civaschi E, Russo S, Magrin S, Loffredo G, Di Salvo V, Russo G, Casale M, De Rocco D, Grignani C, Cattaneo M, Baronci C, Dragani A, Albano V, Jankovic M, Scianguetta S, Savoia A, Balduini CL (2012) Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb{alpha} (Bolzano mutation). Haematologica 97:82-88
55. Nurden AT, Nurden P (2007) The gray platelet syndrome: Clinical spectrum of the disease. Blood Rev 21:21-36
56. Nurden P, Debili N, Coupry I, Bryckaert M, Youlyouz-Marfak I, Solé G, Pons AC, Berrou E, Adam F, Kauskot A, Lamaziere JM, Rameau P, Fergelot P, Rooryck C, Cailley D, Arveiler B, Lacombe D, Vainchenker W, Nurden A, Goizet C (2011a) Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. Blood 118:5928-5937
57. Nurden AT, Fiore M, Nurden P, Pillois X (2011b) Glanzmann thrombasthenia: A review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. Blood 118:5996-6005
58. Othman M (2011) Platelet-type Von Willebrand disease: Three decades in the life of a rare bleeding disorder. Blood Rev 25:147-153
59. Othman M, Notley C, Lavender FL, White H, Byrne CD, Lillicrap D, O'Shaughnessy DF (2005) Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptidecoding region of the GPIBA gene resulting in platelet-type von Willebrand disease. Blood 105:4330-4336
60. Pai SY, Notarangelo LD (2010) Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: Advances in biology and future directions for treatment. Immunol Allergy Clin North Am 30:179-194
61. Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R (2006) Periventricular heterotopia: Phenotypic heterogeneity and correlation with Filamin A mutations. Brain 129:1892-1906
62. Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V, Gresele P, Lethagen S, Fabris F, Dufour C, Granata A, Doubek M, Pecoraro C, Koivisto PA, Heller PG, Iolascon A, Alvisi P, Schwabe D, De Candia E, Rocca B, Russo U, Ramenghi U, Noris P, Seri M, Balduini CL, Savoia A (2008) Position ofnonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat 29:409-417
63. Pecci A, Malara A, Badalucco S, Bozzi V, Torti M, Balduini CL, Balduini A (2009) Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation. Thromb Haemost 102:90-96
64. Pecci A, Bozzi V, Panza E, Barozzi S, Gruppi C, Seri M, Balduini CL (2011) Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. Thromb Haemost 106:693-704
65. Pecci A, Biino G, Fierro T, Bozzi V, Mezzasoma A, Noris P, Ramenghi U, Loffredo G, Fabris F, Momi S, Magrini U, Pirastu M, Savoia A, Balduini C, Gresele P (2012) Alteration of liver enzymes is a feature of the Myh9-related disease syndrome. PLoS One 7(4):e35986
66. Phillips JD, Steensma DP, Pulsipher MA, Spangrude GJ, Kushner JP (2007) Congenital erythropoietic porphyria due to a mutation in GATA1: The first trans-acting mutation causative for a human porphyria. Blood 109:2618-2621
67. Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F,Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S,Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL (2011) Mutations in the 50 UTRofANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet 88:115-120
68. Raccuglia G (1971) Gray platelet syndrome. A variety of qualitative platelet disorder. Am J Med 51:818-828
69. Raslova H, Komura E, Le Couédic JP, Larbret F, Debili N, Feunteun J, Danos O, Albagli O, Vainchenker W, Favier R (2004) FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J Clin Invest 114:77-84
70. Rees DC, Iolascon A, Carella M, O'marcaigh AS, Kendra JR, Jowitt SN, Wales JK, Vora A, Makris M, Manning N, Nicolaou A, Fisher J, Mann A, Machin SJ, Clayton PT, Gasparini P, Stewart GW (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. Br J Haematol 130:297-309
71. Savoia A, Del Vecchio M, Totaro A et al (1999) An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p. Am J Hum Genet 65:1401-1405
72. Savoia A, Balduini C, Savino M, Noris N, Del Vecchio M, Perotta S, Belletti S, Poggi V, Iolascon A (2001) Autosomal dominant thrombocytopenia is most frequently a heterozygous Bernard-Soulier syndrome. Blood 97:1330-1335
73. Savoia A, Dufour C, Locatelli F, Noris P, Ambaglio C, Rosti V, Zecca M, Ferrari S, di Bari F, Corcione A, Di Stazio M, Seri M, Balduini CL (2007) Congenital amegakaryocytic thrombocytopenia: Clinical and biological consequences of five novel mutations. Hematologica 92:1186-1193
74. Savoia A, Noris P, Perrotta S, Punzo F, Rocco DD, Oostra BA, Balduini CL (2009) Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin. Platelets 20:72-73
75. Savoia A, De Rocco D, Panza E, Bozzi V, Scandellari R, Loffredo G, Mumford A, Heller PG, Noris P, De Groot MR, Giani M, Freddi P, Scognamiglio F, Riondino S, Pujol-Moix N, Fabris F, Seri M, Balduini CL, Pecci A (2010) MYH9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. Throm Haemost 103:826-832
76. Savoia A, Pastore A, De Rocco D, Civaschi E, Di Stazio M, Bottega R, Melazzini F, Bozzi V, Pecci A, Magrin S, Balduini CL, Noris P (2011) Clinical and genetic aspects of Bernard-Soulier syndrome: Searching for genotype/phenotype correlations. Haematologica 96:417-423
77. Schwer HD, Lecine P, Tiwari S, Italiano JE Jr, Hartwig JH, Shivdasani RA (2001) A lineage-restricted and divergent betatubulin isoform is essential for the biogenesis, structure and function of blood platelets. Curr Biol 11:579-586
78. Seri M, Pecci A, Di Bari F, Cusano M, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzarro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Soriano JR, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A (2003) 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 82:203-215
79. Somerville C, Forsyth KD (1993) Wiskott-Aldrich syndrome: An immunodeficiency syndrome not rare in Western Australia. Pediatr Allergy Immunol 4:65-72
80. Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, Loh M, Felix C, Roy DC, Busque L, Kurnit D, Willman C, Gewirtz AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG (1999) Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 23:166-175
81. Su Y, Wang Z, Yang H, Cao L, Liu F, Bai X, Ruan C (2006) Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities. Haematologica 91:1392-1395
82. Thompson AA, Nguyen LT (2000) Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet 26:397-398
83. Thompson AR, Wood WG, Stamatoyannopoulos G (2007) X-linked syndrome of platelet dysfunction, thrombocytopenia, and imbalanced globin chain synthesis with hemolysis. Blood 50:303-316
84. Van Zutven LJ, van Bever Y, Van Nieuwland CC, Huijbregts GC, Van Opstal D, von Bergh AR, Corel LJ, Tibboel D, Wouters CH, Poddighe PJ (2009) Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review. Am J Med Genet A 149A:1468-1475
85. Vettore S, Scandellari R, Moro S, Lombardi AM, Scapin M, Randi ML, Fabris F (2008) Novel point mutation in a leucine-rich repeat of the GPIbalpha chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: The N41H variant. Haematologica 93:1743-1747
86. Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso MC, Ramenghi U, Sacco MG et al (1995) X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 9:414-417
87. Wang G, Cao L, Wang Z, Jiang M, Sun X, Bai X, Ruan C (2012) Macrothrombocytopenia/stomatocytosis specially associated with phytosteria. Clin Appl Thromb Hemost. 2012 Jan 31. [Epub ahead of print]
88. Weiss HJ, Meyer D, Rabinowitz R, Pietu G, Girma JP, Vicic WJ, Rogers J (1982) Pseudo-von Willebrand's disease. An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its highmolecular-weight multimers. N Engl J Med 306:326-333
89. Wiskott A (1937) Familiarer, angeborener MorbusWerlhofii? Montasschr Kinderheilkd 68:212-216