Corrigendum: Genotyping and phenotyping of platelet function disorders (Journal of Thrombosis and Haemostasis (2013) 11(S1) (351–363), (S1538783622051236), (10.1111/jth.12199));Genotyping and phenotyping of platelet function disorders

Journal of Thrombosis and Haemostasis

Volumn 11, Issue SUPPL.1, 2013, Pages 351-363

  Watson, S P ^a   Lowe, G C ^a   Lordkipanidze M ^a   Morgan, N V ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

Bleeding; Blood platelet disorders; Deep sequencing; Platelet aggregation; Platelets

Indexed keywords

PADGEM PROTEIN; THROMBOXANE A2; THROMBOXANE RECEPTOR;

AUTOSOMAL DOMINANT INHERITANCE; BLEEDING DISORDER; BLEEDING TIME; BONE MARROW TRANSPLANTATION; CHROMOSOME 1; FAMILY HISTORY; FOLLOW UP; GENETIC PREDISPOSITION; GENOTYPE; GRAY PLATELET SYNDROME; HEMOSTASIS; HUMAN; MULTICENTER STUDY (TOPIC); NONHUMAN; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW; RNA SEQUENCE; SECRETORY GRANULE; SEROTONIN UPTAKE; THROMBOCYTE ACTIVATION; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; THROMBOCYTE DISORDER; THROMBOCYTE FUNCTION; THROMBOCYTOPENIA; VON WILLEBRAND DISEASE;

EID: 84880578527     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/jth.12373     Document Type: Erratum

References (70)

1. Bolton-Maggs PH, Chalmers EA, Collins PW, Harrison P, Kitchen S, Liesner RJ, Minford A, Mumford AD, Parapia LA, Perry DJ, Watson SP, Wilde JT, Williams MD, Cramer EM. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Br J Haematol 2006; 135: 603-33.
2. Cox K, Price V, Kahr WH. Inherited platelet disorders: a clinical approach to diagnosis and management. Expert Rev Hematol 2011; 4: 455-72.
3. van Ommen CH, Peters M. The bleeding child. Part I: primary hemostatic disorders. Eur J Pediatr 2012; 171: 1-10.
4. Ariga T. Wiskott-Aldrich syndrome; an x-linked primary immunodeficiency disease with unique and characteristic features. Allergol Int 2012; 61: 183-9.
5. Huizing M, Gahl WA. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Curr Mol Med 2002; 2: 451-67.
6. Lowe G, Sánchez GI, Chapman O, Rivera J, Lordkipanidzé M, Dovlatova N, Wilde J, Watson S, Morgan N. The use of microsatellite markers provides a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life. Thromb Haemost 2013; 109. doi:10.1160/TH12-11-0876. in press.
7. Smith H, Galmes R, Gogolina E, Straatman-Iwanowska A, Reay K, Banushi B, Bruce CK, Cullinane AR, Romero R, Chang R, Ackermann O, Baumann C, Cangul H, Cakmak CF, Aygun C, Coward R, Dionisi-Vici C, Sibbles B, Inward C, Kim CA, et al. Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. Hum Mutat 2012; 33: 1656-64.
8. Goubau C, Buyse GM, Di Michele M, van Geet C, Freson K. Regulated granule trafficking in platelets and neurons: a common molecular machinery. Eur J Paediatr Neurol 2013; 17: 117-25.
9. Castermans D, Volders K, Crepel A, Backx L, De Vos R, Freson K, Meulemans S, Vermeesch JR, Schrander-Stumpel CT, De Rijk P, Del-Favero J, van Geet C, van de Ven WJ, Steyaert JG, Devriendt K, Creemers JW. SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. Hum Mol Genet 2010; 19: 1368-78.
10. Izzi B, Francois I, Labarque V, Thys C, Wittevrongel C, Devriendt K, Legius E, van den Bruel A, D'Hooghe M, Lambrechts D, de Zegher F, van Geet C, Freson K. Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. PLoS ONE 2012; 7: e38579.
11. Dumont B, Lasne D, Rothschild C, Bouabdelli M, Ollivier V, Oudin C, Ajzenberg N, Grandchamp B, Jandrot-Perrus M. Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. Blood 2009; 114: 1900-3.
12. Hermans C, Wittevrongel C, Thys C, Smethurst PA, van Geet C, Freson K. A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder. J Thromb Haemost 2009; 7: 1356-63.
13. Kamae T, Kiyomizu K, Nakazawa T, Tadokoro S, Kashiwagi H, Honda S, Kanakura Y, Tomiyama Y. Bleeding tendency and impaired platelet function in a patient carrying a heterozygous mutation in the thromboxane A2 receptor. J Thromb Haemost 2011; 9: 1040-8.
14. Mumford A, Nisar S, Darnige L, Jones M, Bachelot-Loza C, Gandrille S, Zinzindoue F, Fischer AM, Mundell S, Gaussem P. Platelet dysfunction associated with the novel Trp29Cys thromboxane A(2) receptor variant. J Thromb Haemost 2013; 11: 547-54.
15. Mumford AD, Dawood BB, Daly ME, Murden SL, Williams MD, Protty MB, Spalton JC, Wheatley M, Mundell SJ, Watson SP. A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis. Blood 2010; 115: 363-9.
16. Cattaneo M. The platelet P2Y(1)(2) receptor for adenosine diphosphate: congenital and drug-induced defects. Blood 2011; 117: 2102-12.
17. Cattaneo M. Bleeding manifestations of congenital and drug-induced defects of the platelet P2Y12 receptor for adenosine diphosphate. Thromb Haemost 2011; 105(Suppl. 1): S67-74.
18. Eikelboom JW, Hirsh J, Spencer FA, Baglin TP, Weitz JI. Antiplatelet drugs: antithrombotic therapy and prevention of thrombosis, 9th ed: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines. Chest 2012; 141: e89S-119S.
19. Daly ME, Dawood BB, Lester WA, Peake IR, Rodeghiero F, Goodeve AC, Makris M, Wilde JT, Mumford AD, Watson SP, Mundell SJ. Identification and characterization of a novel P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study. Blood 2009; 113: 4110-13.
20. Nisar S, Daly ME, Federici AB, Artoni A, Mumford AD, Watson SP, Mundell SJ. An intact PDZ motif is essential for correct P2Y12 purinoceptor traffic in human platelets. Blood 2011; 118: 5641-51.
21. Malfait F, De Paepe A. Bleeding in the heritable connective tissue disorders: mechanisms, diagnosis and treatment. Blood Rev 2009; 23: 191-7.
22. Frosen J, Tulamo R, Paetau A, Laaksamo E, Korja M, Laakso A, Niemela M, Hernesniemi J. Saccular intracranial aneurysm: pathology and mechanisms. Acta Neuropathol 2012; 123: 773-86.
23. Miller CH, Philipp CS, Stein SF, Kouides PA, Lukes AS, Heit JA, Byams VR, Dowling NF, Kulkarni R. The spectrum of haemostatic characteristics of women with unexplained menorrhagia. Haemophilia 2011; 17: e223-9.
24. Lowe G, Lordkipanidzé M, Dawood B, Clark J, Lester W, Watson S. Investigation of underlying platelet function defects in patients with unexplained menorrhagia. Thromb Res 2013; 131(Suppl. 1): S74 (abstract reference OC-13).
25. Cattaneo M, Hayward CP, Moffat KA, Pugliano MT, Liu Y, Michelson AD. Results of a worldwide survey on the assessment of platelet function by light transmission aggregometry: a report from the platelet physiology subcommittee of the SSC of the ISTH. J Thromb Haemost 2009; 7: 1029.
26. Harrison P, Mackie I, Mumford A, Briggs C, Liesner R, Winter M, Machin S. Guidelines for the laboratory investigation of heritable disorders of platelet function. Br J Haematol 2011; 155: 30-44.
27. Clauser S, Cramer-Borde E. Role of platelet electron microscopy in the diagnosis of platelet disorders. Semin Thromb Hemost 2009; 35: 213-23.
28. Hayward CP, Moffat KA, Liu Y. Laboratory investigations for bleeding disorders. Semin Thromb Hemost 2012; 38: 742-52.
29. Berrou E, Adam F, Lebret M, Fergelot P, Kauskot A, Coupry I, Jandrot-Perrus M, Nurden A, Favier R, Rosa JP, Goizet C, Nurden P, Bryckaert M. Heterogeneity of platelet functional alterations in patients with filamin a mutations. Arterioscler Thromb Vasc Biol 2013; 33: e11-18.
30. Watson S, Daly M, Dawood B, Gissen P, Makris M, Mundell S, Wilde J, Mumford A. Phenotypic approaches to gene mapping in platelet function disorders - identification of new variant of P2Y12, TxA2 and GPVI receptors. Hamostaseologie 2010; 30: 29-38.
31. Lehman CM, Blaylock RC, Alexander DP, Rodgers GM. Discontinuation of the bleeding time test without detectable adverse clinical impact. Clin Chem 2001; 47: 1204-11.
32. Born GV. Aggregation of blood platelets by adenosine diphosphate and its reversal. Nature 1962; 194: 927-9.
33. Harrison P. Assessment of platelet function in the laboratory. Hamostaseologie 2009; 29: 25-31.
34. Dawood BB, Wilde J, Watson SP. Reference curves for aggregation and ATP secretion to aid diagnosis of platelet-based bleeding disorders: effect of inhibition of ADP and thromboxane A(2) pathways. Platelets 2007; 18: 329-45.
35. Miller JL. Platelet function testing: an improved approach utilizing lumi-aggregation and an interactive computer system. Am J Clin Pathol 1984; 81: 471-6.
36. Hayward CP, Moffat KA, Castilloux JF, Liu Y, Seecharan J, Tasneem S, Carlino S, Cormier A, Rivard GE. Simultaneous measurement of adenosine triphosphate release and aggregation potentiates human platelet aggregation responses for some subjects, including persons with Quebec platelet disorder. Thromb Haemost 2012; 107: 726-34.
37. Nieuwenhuis HK, Akkerman JW, Sixma JJ. Patients with a prolonged bleeding time and normal aggregation tests may have storage pool deficiency: studies on one hundred six patients. Blood 1987; 70: 620-3.
38. Favaloro EJ, Lippi G, Franchini M. Contemporary platelet function testing. Clin Chem Lab Med 2010; 48: 579-98.
39. Panzer S, Jilma P. Methods for testing platelet function for transfusion medicine. Vox Sang 2011; 101: 1-9.
40. Peddinghaus ME, Tormey CA. Platelet-related bleeding: an update on diagnostic modalities and therapeutic options. Clin Lab Med 2009; 29: 175-91.
41. Quiroga T, Mezzano D. Is my patient a bleeder? A diagnostic framework for mild bleeding disorders. Hematology Am Soc Hematol Educ Program 2012; 2012: 466-74.
42. Rand ML, Leung R, Packham MA. Platelet function assays. Transfus Apher Sci 2003; 28: 307-17.
43. Blais N, Pharand C, Lordkipanidze M, Sia YK, Merhi Y, Diodati JG. Response to aspirin in healthy individuals. Cross-comparison of light transmission aggregometry, VerifyNow system, platelet count drop, thromboelastography (TEG) and urinary 11-dehydrothromboxane B(2). Thromb Haemost 2009; 102: 404-11.
44. Castilloux JF, Moffat KA, Liu Y, Seecharan J, Pai M, Hayward CP. A prospective cohort study of light transmission platelet aggregometry for bleeding disorders: is testing native platelet-rich plasma non-inferior to testing platelet count adjusted samples? Thromb Haemost 2011; 106: 675-82.
45. Linnemann B, Schwonberg J, Mani H, Prochnow S, Lindhoff-Last E. Standardization of light transmittance aggregometry for monitoring antiplatelet therapy: an adjustment for platelet count is not necessary. J Thromb Haemost 2008; 6: 677-83.
46. Dawood BB, Lowe GC, Lordkipanidze M, Bem D, Daly ME, Makris M, Mumford A, Wilde JT, Watson SP. Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel. Blood 2012; 120: 5041-9.
47. Lowe G, Motwani J, Williams M, Simpson M, Watson S, Morgan N. A mutation in ANKRD18A, ankyrin repeat domain 18A, causes a severe form of congenital thrombocytopenia: Presented at 58th Scientific and Standardization Committee meeting of the International Society on Thrombosis and Haemostasis. Liverpool, United Kingdom, 2012 ref. SSC12-PC01.
48. Chan MV, Armstrong PC, Papalia F, Kirkby NS, Warner TD. Optical multichannel (optimul) platelet aggregometry in 96-well plates as an additional method of platelet reactivity testing. Platelets 2011; 22: 485-94.
49. Chan MV, Warner TD. Standardised optical multichannel (optimul) platelet aggregometry using high-speed shaking and fixed time point readings. Platelets 2012; 23: 404-8.
50. Lordkipanidzé M, Chan M, Lowe G, Dawood B, Warner T, Watson S, on behalf of the GAPP consortium. Head-to-head comparison of the Optimul assay (96-well plate aggregometry) with gold standard light transmission aggregometry for detection of acquired and inherited platelet defects. Presented at 58th Scientific and Standardization Committee meeting of the International Society on Thrombosis and Haemostasis. Liverpool, United Kingdom, 2012 ref. SSC12-HDC04.
51. Fox SC, May JA, Shah A, Neubert U, Heptinstall S. Measurement of platelet P-selectin for remote testing of platelet function during treatment with clopidogrel and/or aspirin. Platelets 2009; 20: 250-9.
52. Rodeghiero F, Tosetto A, Abshire T, Arnold DM, Coller B, James P, Neunert C, Lillicrap D. ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Thromb Haemost 2010; 8: 2063-5.
53. Henson J, Tischler G, Ning Z. Next-generation sequencing and large genome assemblies. Pharmacogenomics 2012; 13: 901-15.
54. Desai AN, Jere A. Next-generation sequencing: ready for the clinics? Clin Genet 2012; 81: 503-10.
55. Pareek CS, Smoczynski R, Tretyn A. Sequencing technologies and genome sequencing. J Appl Genet 2011; 52: 413-35.
56. Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, Abecasis G, Altshuler D, Nickerson DA, Boerwinkle E, Sunyaev S, et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012; 337: 64-9.
57. Morgan NV, Pasha S, Johnson CA, Ainsworth JR, Eady RA, Dawood B, McKeown C, Trembath RC, Wilde J, Watson SP, Maher ER. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Hum Genet 2006; 78: 160-6.
58. 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. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet 2011; 43: 735-7.
59. 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, et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. Nat Genet 2011; 43: 732-4.
60. 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, et al. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet 2011; 43: 738-40.
61. 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. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet 2007; 80: 232-40.
62. 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, et al. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet 2012; 44: 435-9, S1-2.
63. Favier R, Jondeau K, Boutard P, Grossfeld P, Reinert P, Jones C, Bertoni F, Cramer EM. Paris-Trousseau syndrome: clinical, hematological, molecular data of ten new cases. Thromb Haemost 2003; 90: 893-7.
64. 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, et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999; 23: 166-75.
65. Jones ML, Murden SL, Bem D, Mundell SJ, Gissen P, Daly ME, Watson SP, Mumford AD. Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome. J Thromb Haemost 2012; 10: 306-9.
66. De Cuyper IM, Meinders M, van de Vijver E, de Korte D, Porcelijn L, de Haas M, Eble JA, Seeger K, Rutella S, Pagliara D, Kuijpers TW, Verhoeven AJ, van den Berg TK, Gutierrez L. A novel flow cytometry-based platelet aggregation assay. Blood 2013; 121: e70-80.
67. Westein E, de Witt S, Lamers M, Cosemans JM, Heemskerk JW. Monitoring in vitro thrombus formation with novel microfluidic devices. Platelets 2012; 23: 501-9.
68. Welsh JD, Colace TV, Muthard RW, Stalker TJ, Brass LF, Diamond SL. Platelet-targeting sensor reveals thrombin gradients within blood clots forming in microfluidic assays and in mouse. J Thromb Haemost 2012; 10: 2344-53.
69. Flamm MH, Colace TV, Chatterjee MS, Jing H, Zhou S, Jaeger D, Brass LF, Sinno T, Diamond SL. Multiscale prediction of patient-specific platelet function under flow. Blood 2012; 120: 190-8.
70. Fuster V, Bhatt DL, Califf RM, Michelson AD, Sabatine MS, Angiolillo DJ, Bates ER, Cohen DJ, Coller BS, Furie B, Hulot JS, Mann KG, Mega JL, Musunuru K, O'Donnell CJ, Price MJ, Schneider DJ, Simon DI, Weitz JI, Williams MS, et al. Guided antithrombotic therapy: current status and future research direction: report on a National Heart, Lung and Blood Institute working group. Circulation 2012; 126: 1645-62.