Genetics of inherited platelet disorders

Hamostaseologie

Volumn 34, Issue 2, 2014, Pages 133-141

  Gothwal, M ^a   Sandrock Lang, K ^a   Zieger, B ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Bleeding disorder; Inherited platelet disorders; Molecular genetics; Platelets

Indexed keywords

COLLAGEN RECEPTOR; PURINERGIC P2Y12 RECEPTOR; BLOOD CLOTTING FACTOR; FIBRINOGEN RECEPTOR; GENETIC MARKER;

BERNARD SOULIER DISEASE; BLEEDING; CHEDIAK HIGASHI SYNDROME; CLINICAL FEATURE; EPISTAXIS; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; GINGIVA BLEEDING; GLANZMANN DISEASE; GRAY PLATELET SYNDROME; GRISCELLI SYNDROME; HUMAN; INHERITED PLATELET DISORDER; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; OCULAR ALBINISM; QUEBEC PLATELET DISORDER; REVIEW; THROMBOCYTE DISORDER; TREATMENT PLANNING; VON WILLEBRAND DISEASE; WISKOTT ALDRICH SYNDROME; BLOOD PLATELET DISORDERS; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM;

BLOOD COAGULATION FACTORS; BLOOD PLATELET DISORDERS; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; PLATELET MEMBRANE GLYCOPROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84901479118     PISSN: 07209355     EISSN: None     Source Type: Journal    
DOI: 10.5482/HAMO-13-09-0049     Document Type: Review

References (64)

1. Frojmovic MM, Milton JG. Human platelet size, shape, and related functions in health and disease. Physiol Rev 1982; 62: 185-261.
2. Santoro SA, Zutter MM. The alpha 2 beta 1 integrin: a collagen receptor on platelets and other cells. Thromb Haemost 1995; 74: 813-821.
3. Bennett JS. Structure and function of the platelet integrin alphaIIbbeta3. J Clin Invest 2005; 115: 3363-3369.
4. Bernard J, Soulier J. Sur une nouvelle variété de dystrophie thrombocytaire-hémorragipare congénitale. Sem Hop 1948; 24: 3217-3223.
5. López JA, Andrews RK, Afshar-Kharghan V, Berndt MC. Bernard-Soulier syndrome. Blood 1998; 91: 4397-4418.
6. Savoia A, Pastore A, De Rocco D et al. Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. Haematologica 2011; 96: 417-423.
7. Salles II, Feys HB, Iserbyt BF et al. Inherited traits affecting platelet function. Blood Rev 2008; 22: 155-172.
8. Nurden A, Nurden P. Advances in our understanding of the molecular basis of disorders of platelet function. J Thromb Haemost 2011; 9 (Suppl 1): 76-91.
9. Bartsch I, Sandrock K, Lanza F et al. Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay. Thromb Haemost 2011; 106: 475-483.
10. Balduini CL, Savoia A.Genetics of familial forms of thrombocytopenia. Hum Genet 2012; 131: 1821-1832.
11. Savoia A, Balduini CL, Savino M et al. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood 2001; 97: 1330-1335.
12. Miller JL, Lyle VA, Cunningham D. 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 1992; 79: 439-446.
13. Kunishima S, Imai T, Hamaguchi M, Saito H. 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 2006; 76: 348-355.
14. Vettore S, Scandellari R, Moro S et al. 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 2008; 93: 1743-1747.
15. Weiss HJ, Meyer D, Rabinowitz R et al. Pseudo-von Willebrand's disease. An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers. N Engl J Med 1982; 306: 326-333.
16. Miller JL, Castella A. Platelet-type von Willebrand's disease: characterization of a new bleeding disorder. Blood 1982; 60: 790-794.
17. Othman M. Platelet-type Von Willebrand disease: three decades in the life of a rare bleeding disorder. Blood Rev 2011; 25: 147-153.
18. Glanzmann W. Hereditary haemorrhagic thrombasthenia. A contribution to the pathology of platelets. Jahrbuch für Kinderheilkunde 1918; 88: 1-42, 113-141.
19. Wiegering V, Sauer K, Winkler B et al. Indication for allogeneic stem cell transplantation in Glanzmann's thrombasthenia. Hamostaseologie 2013; 33: 305-312.
20. French DL, Seligsohn U. Platelet glycoprotein IIb/IIIa receptors and Glanzmann's thrombasthenia. Arterioscler Thromb Vasc Biol 2000; 20: 607-610.
21. Kannan M, Saxena R. Glanzmann's thrombasthenia: an overview. Clin Appl Thromb Hemost 2009; 15: 152-165.
22. Nurden AT. Glanzmann thrombasthenia. Orphanet J Rare Dis 2006; 1: 10.
23. Lanza F. Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy). Orphanet J Rare Dis 2006; 1: 46.
24. Savoia A, De Rocco D, Panza E 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.
25. Pecci A, Panza E, Pujol-Moix N et al. Position of nonmuscle myosin heavy chain IIA (NMMHCIIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat 2008; 29: 409-417.
26. Pecci A, Malara A, Badalucco S et al. Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation. Thromb Haemost 2009; 102: 90-96.
27. Balduini A, Pallotta I, Malara A et al. Adhesive receptors, extracellular proteins and myosin IIA orchestrate proplatelet formation by human megakaryocytes. J Thromb Haemost 2008; 6: 1900-1907.
28. Aldrich RA, Steinberg AG, Campbell DC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 1954; 13: 133-139.
29. Bosticardo M, Marangoni F, Aiuti A et al. Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome. Blood 2009; 113: 6288-6295.
30. Sabri S, Foudi A, Boukour S et al. Deficiency in the Wiskott-Aldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment. Blood 2006; 108: 134-140.
31. Kawasaki Y, Toyoda H, Otsuki S et al. A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura. Eur J Haematol 2013; 90: 164-168.
32. Sadler JE. Von Willebrand factor, ADAMTS13, and thrombotic thrombocytopenic purpura. Blood 2008; 112: 11-18.
33. Simon D, Kunicki T, Nugent D. Platelet function defects. Haemophilia 2008; 14: 1240-1249.
34. Raccuglia G. Gray platelet syndrome. A variety of qualitative platelet disorder. Am J Med 1971; 51: 818-828.
35. Maynard DM, Heijnen HF, Gahl WA, Gunay-Aygun M. The á-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. J Thromb Haemost 2010; 8: 1786-1796.
36. Gunay-Aygun M, Zivony-Elboum Y, Gumruk F et al. Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood 2010; 116: 4990-5001.
37. Albers CA, Cvejic A, Favier R et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet 2011; 43: 735-737.
38. Gunay-Aygun M, Falik-Zaccai TC, Vilboux T et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet á-granules. Nat Genet 2011; 43: 732-734.
39. Kahr WH, Hinckley J, Li L, Schwertz H et al. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet 2011; 43: 738-740.
40. McKay H, Derome F, Haq MA et al. Bleeding risks associated with inheritance of the Quebec platelet disorder. Blood 2004; 104: 159-165.
41. Sandrock K, Zieger B. Current Strategies in diagnosis of inherited storage pool defects. Transfus Med Hemother 2010; 37: 248-258.
42. Veljkovic DK, Rivard GE, Diamandis M et al. Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation. Blood 2009; 113: 1535-1542.
43. Paterson AD, Rommens JM, Bharaj B et al. Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. Blood 2010; 115: 1264-1266.
44. Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 1959; 14: 162-169.
45. Huizing M, Helip-Wooley A, Westbroek W et al. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet 2008; 9: 359-386.
46. Wei ML. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res 2006; 19: 19-42.
47. Cullinane AR, Curry JA, Carmona-Rivera C et al. A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Am J Hum 2011; Genet 88: 778-787.
48. O'Brien K, Troendle J, Gochuico BR et al. Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab 2011; 103: 128-134.
49. Enders A, Zieger B, Schwarz K et al. Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood 2006; 108: 81-87.
50. Jessen B, Bode SF, Ammann S et al. The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood 2013; 121: 2943-2951.
51. Sandrock K, Bartsch I, Rombach N et al. Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1). Klin Padiatr 2010; 222: 168-174.
52. Kurnik K, Bartsch I, Maul-Pavicic A et al. Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype. Platelets 2013; 24: 538-543.
53. Huizing M, Parkes JM, Helip-Wooley A et al. Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. Platelets 2007; 18: 150-157.
54. Cutler DF. Introduction: lysosome-related organelles. Semin Cell Dev Biol 2002; 13: 261-262.
55. Sato A. Chédiak and Higashi's disease: probable identity of a new leucocytal anomaly (Chédiak) and congenital gigantism of peroxidase granules (Higashi). Tohoku J Exp Med 1955; 61: 201-210.
56. Kaya Z, Ehl S, Albayrak M et al. A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome. Pediatr Blood Cancer 2011; 56: 1136-1139.
57. Ménasché G, Ho CH, Sanal O et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest 2003; 112: 450-456.
58. Jennane S, El Kababri M, Hessissen L et al. A hemophagocytic syndrome revealing a Griscelli syndrome type 2. Ann Biol Clin (Paris) 2013; 71: 461-464.
59. Westbroek W, Klar A, Cullinane AR et al. Cellular and clinical report of new Griscelli syndrome type III cases. Pigment Cell Melanoma Res 2012; 25: 47-56.
60. Jurk K, Schulz AS, Kehrel BE et al. Novel integrindependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3. Thromb Haemost 2010; 103: 1053-1064.
61. Malinin NL, Zhang L, Choi J et al. A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans. Nat Med 2009; 15: 313-318.
62. Dumont B, Lasne D, Rothschild C et al. Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. Blood 2009; 114: 1900-1903.
63. D'Andrea G, Chetta M, Margaglione M. Inherited platelet disorders: thrombocytopenias and thrombocytopathies. Blood Transfus 2009; 7: 278-292.
64. Novak EK, Gautam R, Reddington M et al. The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background. Blood 2002; 100: 128-135.