Spectrum of the mutations in bernard-soulier syndrome

Human Mutation

Volumn 35, Issue 9, 2014, Pages 1033-1045

  Savoia, Anna ^a,b   Kunishima, Shinji ^c   De Rocco, Daniela ^b   Zieger, Barbara ^d   Rand, Margaret L ^e   Pujol Moix, Nuria ^f   Caliskan, Umran ^g   Tokgoz, Huseyin ^g   Pecci, Alessandro ^h   Noris, Patrizia ^h   Srivastava, Alok ⁱ   Ward, Christopher ^j   Morel Kopp, Marie Christine ^j   Alessi, Marie Christine ^k   Bellucci, Sylvia ^l   Beurrier, Philippe ^m   de Maistre, Emmanuel ⁿ   Favier, Rémi ^o,p   Hézard, Nathalie ^q   Hurtaud Roux, Marie Françoise ^r   Latger Cannard, Véronique ^s   Lavenu Bombled, Cécile ^t   Proulle, Valérie ^t   Meunier, Sandrine ^u   Négrier, Claude ^v   Nurden, Alan ^w   Randrianaivo, Hanitra ^x   Fabris, Fabrizio ^y   Platokouki, Helen ^z   Rosenberg, Nurit ^aa   Hadjkacem, Basma ^ab   Heller, Paula G ^ac   Karimi, Mehran ^ad   Balduini, Carlo L ^h   Pastore, Annalisa ^ae   Lanza, Francois ^k,af,ag,ah   more..

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b UNIVERSITY OF TRIESTE   (Italy)

^c NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

^d UNIVERSITY OF FREIBURG   (Germany)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^g NECMETTIN ERBAKAN UNIVERSITY   (Turkey)

^h FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

ⁱ CHRISTIAN MEDICAL COLLEGE   (India)

^j UNIVERSITY OF SYDNEY   (Australia)

^k INSERM   (France)

^l HÔPITAL LARIBOISIÈRE   (France)

^m ANGERS UNIVERSITY HOSPITAL   (France)

ⁿ HÔPITAL DU BOCAGE   (France)

^o ARMAND TROUSSEAU HOSPITAL   (France)

^p Universite Paris Sud   (France)

^q SERVICE DE DERMATOLOGIE   (France)

^r HÔPITAL ROBERT DEBRÉ   (France)

^s UNIVERSITY HOSPITAL OF NANCY   (France)

^t BICÊTRE HOSPITAL   (France)

^u HOSPICES CIVILS DE LYON   (France)

^v EDOUARD HERRIOT HOSPITAL   (France)

^w Ctr Geriatrie Ctr Hosp Univ B   (France)

^x UNIVERSITY OF MONTREAL   (Canada)

^y UNIVERSITY OF PADOVA   (Italy)

^z Children's Hospital   (Greece)

^aa SHEBA MEDICAL CENTER   (Israel)

^ab CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

^ac INSTITUTO DE INVESTIGACIONES MÉDICAS ALFREDO LANARI   (Argentina)

^ad SHIRAZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^ae KING'S COLLEGE LONDON   (United Kingdom)

^af ETABLISSEMENT FRANÇAIS DU SANG   (France)

^ag UNIVERSITÉ DE STRASBOURG   (France)

^ah Centre de Compétence Nord Est des Pathologies Plaquettaires   (France)

more..

Author keywords

Bernard Soulier syndrome; GP1BA; GP1BB; GP9

Indexed keywords

SIGNAL PEPTIDE; ADHESION RECEPTOR; THROMBIN RECEPTOR;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BERNARD SOULIER DISEASE; CONFORMATION; EXON; FOUNDER EFFECT; FRAMESHIFT MUTATION; GAIN OF FUNCTION MUTATION; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC CODE; GENETIC VARIABILITY; GP1BA GENE; GP1BB GENE; GP9 GENE; GPIB ALPHA GENE; GPIB BETA GENE; GPIX GENE; HAPLOINSUFFICIENCY; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PALATOPHARYNGEAL INCOMPETENCE; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; THROMBOCYTE MEMBRANE; THROMBOCYTE RELEASE REACTION; TRANSIENT EXPRESSION; WILD TYPE; ALLELE; BERNARD-SOULIER SYNDROME; GENETICS; MUTATION; NUCLEIC ACID DATABASE; SINGLE NUCLEOTIDE POLYMORPHISM; VON WILLEBRAND DISEASE; WEB BROWSER;

ALLELES; BERNARD-SOULIER SYNDROME; DATABASES, NUCLEIC ACID; FOUNDER EFFECT; GENETIC VARIATION; HUMANS; MUTATION; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; POLYMORPHISM, SINGLE NUCLEOTIDE; VON WILLEBRAND DISEASES; WEB BROWSER;

EID: 84906056536     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22607     Document Type: Article

References (122)

1. Afrasiabi A, Lecchi A, Artoni A, Karimi M, Ashouri E, Peyvandi F, Mannucci PM. 2007. Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran. Platelets 18:409-413.
2. Afshar-Kharghan V, Lopez JA. 1997. Bernard-Soulier syndrome caused by a dinucleotide deletion and reading frameshift in the region encoding the glycoprotein Ib alpha transmembrane domain. Blood 90:2634-2643.
3. Afshar-Kharghan V, Li CQ, Khoshnevis-Asl M, López JA. 1999. Kozak sequence polymorphism of the glycoprotein (GP) Ibalpha gene is a major determinant of the plasma membrane levels of the platelet GP Ib-IX-V complex. Blood 94:186-191.
4. Afshar-Kharghan V, Craig FE, Lopez JA. 2000. Bernard-Soulier syndrome in a patient doubly heterozygous for two frameshift mutations in the glycoprotein Ib alpha gene. Br J Haematol 110:919-924.
5. Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, Read RJ, Sipos B, et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet 43:735-737.
6. Ali S, Ghosh K, Shetty S. 2013. Molecular pathology of Bernard-Soulier syndrome in Indian patients. Platelets 24:571-573.
7. Ali S, Ghosh K, Shetty S. 2014. Novel genetic abnormalities in Bernard-Soulier syndrome in India. Ann Hematol 93:381-384.
8. Andrews RK, Harris SJ, McNally T, Berndt MC. 1998. Binding of purified 14-3-3 zeta signaling protein to discrete amino acid sequences within the cytoplasmic domain of the platelet membrane glycoprotein Ib-IX-V complex. Biochemistry 37:638-647.
9. Antonucci JV, Martin ES, Hulick PJ, Joseph A, Martin SE. 2000. Bernard-Soulier syndrome: common ancestry in two African American families with the GP Ib alpha Leu129Pro mutation. Am J Hematol 65:141-148.
10. 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.
11. Balduini A, Malara A, Balduini CL, Noris P. 2011a. Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro. Platelets 22:308-311.
12. Balduini CL, Pecci A, Savoia A. 2011b. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol 154:161-174.
13. Balduini CL, Savoia A. 2012. Genetics of familial forms of thrombocytopenia. Hum Genet 131:1821-1832.
14. Balduini CL, Pecci A, Noris P. 2013a. Diagnosis and management of inherited thrombocytopenias. Semin Thromb Hemost 39:161-171.
15. Balduini CL, Savoia A, Seri M. 2013b. Inherited thrombocytopenias frequently diagnosed in adults. J Thromb Haemost 11:1006-1019.
16. Bartsch I, Sandrock K, Lanza F, Nurden P, Hainmann I, Pavlova A, Greinacher A, Tacke U, Barth M, Busse A, Oldenburg J, Bommer M, et al. 2011. Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay. Thromb Haemost 106:475-483.
17. Blenner AM, Dong X, Springer TA. 2014. Structural basis of regulation of von Willebrand factor binding to glycoprotein Ib. J Biol Chem 289:5565-5579.
18. Bowers MJ, Orr NJ, Dempsey S, Alexander HD. 2006. Molecular genetics and transfusion management in a child with Bernard-Soulier syndrome. Blood Coagul Fibrinolysis 17:409-411.
19. Budarf ML, Konkle BA, Ludlow LB, Michaud D, Li M, Yamashiro DJ, McDonald-McGinn D, Zackai EH, Driscoll DA. 1995. Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. Hum Mol Genet 4:763-766.
20. Clemetson JM, Kyrle PA, Brenner B, Clemetson KJ. 1994. Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX. Blood 84:1124-1131.
21. Dagistan N, Kunishima S. 2007. First Turkish case of Bernard-Soulier syndrome associated with GPIX N45S. Acta Haematol 118:146-148.
22. De la Salle C, Baas MJ, Lanza F, Schwartz A, Hanau D, Chevalier J, Gachet C, Briquel ME, Cazenave JP. 1995. A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I). Br J Haematol 89:386-396.
23. De Marco L, Mazzucato M, Fabris F, De Roia D, Coser P, Girolami A, Vicente V, Ruggeri ZM. 1990. Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex. J Clin Invest 86:25-31.
24. Donner M, Karpman D, Kristoffersson AC, Winqvist I, Holmberg L. 1996. Recurrent mutation Asn45>Ser of glycoprotein IX in Bernard-Soulier syndrome. Eur J Haematol 57:178-179.
25. De Rocco D, Bottega R, Cappelli E, Cavani S, Criscuolo M, Nicchia E, Corsolini F, Greco C, Borriello A, Svahn J, Pillon M, Mecucci C, et al. 2014. Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. Haematologica 99:1022-1031. [Epub ahead of print]
26. Dreyfus M, Desconclois C, Guitton C, Baas M-J, Mandard H, Boisseau P, Goudemand J, Caron C, Itzhar N, Veyradier A, Lanza F, Fressinaud E. 2011. First case of platelet-type Von Willebrand disease (PT-VWD) asociated with type 2B Von Willebrand disease (2B VWD). American Society of Hematology, Annual Meeting 2011. Abstract 5313.
27. Drouin J, Carson NL, Laneuville O. 2005. Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. Am J Hematol 78:41-48.
28. Du X, Fox JE, Pei S. 1996. Identification of a binding sequence for the 14-3-3 protein within the cytoplasmic domain of the adhesion receptor, platelet glycoprotein Ib alpha. J Biol Chem 271:7362-7367.
29. Enayat S, Ravanbod S, Rassoulzadegan M, Jazebi M, Tarighat S, Ala F, Emsley J, Othman M. 2012. A novel D235Y mutation in the GP1BA gene enhances platelet interaction with von Willebrand factor in an Iranian family with platelet-type von Willebrand disease. Thromb Haemost 108:946-954.
30. Glembotsky AC, Marta RF, Pecci A, De Rocco D, Gnan C, Espasandin YR, Goette NP, Negro F, Noris P, Savoia A, Balduini CL, Molinas FC, et al. 2012. International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country. J Thromb Haemost 10:1653-1661.
31. Gohda F, Uchiumi H, Handa H, Matsushima T, Tsukamoto N, Morita K, Amagai H, Murakami M, Murakami H, Nojima Y, Karasawa M. 2007. Identification of inherited macrothrombocytopenias based on mean platelet volume among patients diagnosed with idiopathic thrombocytopenia. Thromb Res 119:741-746.
32. Gonzalez-Manchon C, Larrucea S, Pastor AL, Butta N, Arias-Salgado EG, Ayuso MS, Parrilla R. 2001. Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome. Thromb Haemost 86:1385-1391.
33. Gonzalez-Manchon C, Butta N, Iruin G, Alonso S, Ayuso MS, Parrilla R. 2003. Disruption of the Cys5-Cys7 disulfide bridge in the platelet glycoprotein Ibbeta prevents the normal maturation and surface exposure of GPIb-IX complexes. Thromb Haemost 90:456-464.
34. Hadjkacem B, Elleuch H, Gargouri J, Gargouri A. 2009. Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression. Ann Hematol 88:465-472.
35. Hadjkacem B, Elleuch H, Trigui R, Gargouri J, Gargouri AF. 2010. The same genetic defect in three Tunisian families with Bernard-Soulier syndrome: a probable founder Stop mutation in GPIbbeta. Ann Hematol 89:75-81.
36. 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.
37. Hillmann A, Nurden A, Nurden P, Combrie R, Claeyssens S, Moran N, Kenny D. 2002. A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta-platelet characterization and transfection studies. Thromb Haemost 88:1026-1032.
38. Holmberg L, Karpman D, Nilsson I, Olofsson T. 1997. Bernard-Soulier syndrome Karlstad: Trp 498>Stop mutation resulting in a truncated glycoprotein Ib alpha that contains part of the transmembranous domain. Br J Haematol 98:57-63.
39. Imai C, Kunishima S, Takachi T, Iwabuchi H, Nemoto T, Imamura M, Uchiyama M. 2009. A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibalpha gene in a patient with Bernard-Soulier syndrome. Blood Coagul Fibrinolysis 20:470-474.
40. Iwanaga M, Kunishima S, Ikeda S, Tomonaga M, Naoe T. 1998. Vulnerable mutation Trp126>stop of glycoprotein IX in Japanese Bernard-Soulier syndrome. Eur J Haematol 60:264-266.
41. Kanaji T, Okamura T, Kurolwa M, Noda M, Fujimura K, Kuramoto A, Sano M, Nakano S, Niho Y. 1997. Molecular and genetic analysis of two patients with Bernard-Soulier syndrome: identification of new mutations in glycoprotein Ib alpha gene. Thromb Haemost 77:1055-1061.
42. Kanaji S, Kuether EL, Fahs SA, Schroeder JA, Ware J, Montgomery RR, Shi Q. 2012. Correction of murine Bernard-Soulier syndrome by lentivirus-mediated gene therapy. Mol Ther 20:625-632.
43. Kenny D, Newman PJ, Morateck PA, Montgomery RR. 1997. A dinucleotide deletion results in defective membrane anchoring and circulating soluble glycoprotein Ib alpha in a novel form of Bernard-Soulier syndrome. Blood 90:2626-2633.
44. Kenny D, Jonsson OG, Morateck PA, Montgomery RR. 1998. Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein. Blood 92:175-183.
45. Kenny D, Morateck PA, Gill JC, Montgomery RR. 1999. The critical interaction of glycoprotein (GP) IBbeta with GPIX-a genetic cause of Bernard-Soulier syndrome. Blood 93:2968-2975.
46. Koskela S, Javela K, Jouppila J, Juvonen E, Nyblom O, Partanen J, Kekomaki R. 1999a. Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families. Eur J Haematol 62:256-264.
47. Koskela S, Partanen J, Salmi TT, Kekomaki R. 1999b. Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families. Eur J Haematol 62:160-168.
48. Kunishima S, Miura H, Fukutani H, Yoshida H, Osumi K, Kobayashi S, Ohno R, Naoe T. 1994. Bernard-Soulier syndrome Kagoshima: Ser 444>stop mutation of glycoprotein (GP) Ib alpha resulting in circulating truncated GPIb alpha and surface expression of GPIb beta and GPIX. Blood 84:3356-3362.
49. Kunishima S, Lopez JA, Kobayashi S, Imai N, Kamiya T, Saito H, Naoe T. 1997. Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder. Blood 89:2404-2412.
50. Kunishima S, Tomiyama Y, Honda S, Kurata Y, Kamiya T, Ozawa K, Saito H. 1999. Cys97>Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome. Br J Haematol 107:539-545.
51. Kunishima S, Tomiyama Y, Honda S, Fukunishi M, Hara J, Inoue C, Kamiya T, Saito H. 2000. Homozygous Pro74>Arg mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome. Thromb Haemost 84:112-117.
52. Kunishima S, Naoe T, Kamiya T, Saito H. 2001. Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder. Am J Hematol 68:249-255.
53. Kunishima S, Matsushita T, Ito T, Kamiya T, Saito H. 2002. Novel nonsense mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome. Am J Hematol 71:279-284.
54. Kunishima S, Imai T, Hamaguchi M, Saito H. 2006a. 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.
55. Kunishima S, Sako M, Yamazaki T, Hamaguchi M, Saito H. 2006b. Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations. Eur J Haematol 77:501-512.
56. Kunishima S, Yamada T, Hamaguchi M, Saito H. 2006c. Bernard-Soulier syndrome due to GPIX W127X mutation in Japan is frequently misdiagnosed as idiopathic thrombocytopenic purpura. Int J Hematol 83:366-367.
57. Kunishima S, Saito H. 2010. Advances in the understanding of MYH9 disorders. Curr Opin Hematol 17:405-410.
58. Kunishima S, Imai T, Kobayashi R, Kato M, Ogawa S, Saito H. 2013a. Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion. Pediatr Int 55:434-437.
59. Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, et al. 2013b. ACTN1 mutations cause congenital macrothrombocytopenia. Am J Hum Genet 92:431-438.
60. Kurokawa Y, Ishida F, Kamijo T, Kunishima S, Kenny D, Kitano K, Koike K. 2001. A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression-Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form. Thromb Haemost 86:1249-1256.
61. Lanza F, De La Salle C, Baas MJ, Schwartz A, Boval B, Cazenave JP, Caen JP. 2002. A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex. Br J Haematol 118:260-266.
62. Lanza F, Baas M-J, Dupuis A, Randrianaivo-Ranjatoelina H, Jacquemont M-L, Dreyfus M, Lavenu-Bombled C, Gachet C. 2013. Founder effect for a novel GPIBB mutation in Bernard-Soulier patients from La Réunion island. Abstracts of the XXIV Congress of the International Society on Thrombosis and Haemostasis. J Thromb Haemost 11:1-1322.
63. Li C, Martin SE, Roth GJ. 1995. The genetic defect in two well-studied cases of Bernard-Soulier syndrome: a point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ib alpha. Blood 86:3805-3814.
64. Li C, Pasquale DN, Roth GJ. 1996. Bernard-Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib alpha due to a homozygous one-base deletion. Thromb Haemost 76:670-674.
65. Li R, Emsley J. 2013. The organizing principle of the platelet glycoprotein Ib-IX-V complex. J Thromb Haemost 11:605-614.
66. Liang HP, Morel-Kopp MC, Clemetson JM, Clemetson KJ, Kekomaki R, Kroll H, Michaelides K, Tuddenham EG, Vanhoorelbeke K, Ward CM. 2005. A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier syndrome (BSS). Thromb Haemost 94:599-605.
67. 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.
68. López JA, Ludwig EH, McCarthy BJ. 1992. Polymorphism of human glycoprotein Ib alpha results from a variable number of tandem repeats of a 13-amino acid sequence in the mucin-like macroglycopeptide region. Structure/function implications. J Biol Chem 267:10055-10061.
69. López JA, Andrews RK, Afshar-Kharghan V, Berndt MC. 1998. Bernard-Soulier syndrome. Blood 91:4397-4418.
70. Ludlow LB, Schick BP, Budarf ML, Driscoll DA, Zackai EH, Cohen A, Konkle BA. 1996. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. J Biol Chem 271:22076-22080.
71. Luo SZ, Mo X, Afshar-Kharghan V, Srinivasan S, López JA, Li R. 2007. Glycoprotein Ibalpha forms disulfide bonds with 2 glycoprotein Ibbeta subunits in the resting platelet. Blood 109:603-609.
72. Mahfouz RA, Bolz HJ, Otrock ZK, Bergmann C, Muwakkit S. 2012. Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity. Blood Coagul Fibrinolysis 23:335-337.
73. Mangin PH, Receveur N, Wurtz V, David T, Gachet C, Lanza F. 2009. Identification of five novel 14-3-3 isoforms interacting with the GPIb-IX complex in platelets. J Thromb Haemost 7:1550-1555.
74. Margaglione M, D'Andrea G, Grandone E, Brancaccio V, Amoriello A, Di Minno G. 1999. Compound heterozygosity (554-589 del, C515-T transition) in the platelet glycoprotein Ib alpha gene in a patient with a severe bleeding tendency. Thromb Haemost 81:486-492.
75. McEwan PA, Yang W, Carr KH, Mo X, Zheng X, Li R, Emsley J. 2011. Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera. Blood 118:5292-5301.
76. 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.
77. Mitsui T, Yokoyama S, Yazaki N, Hayashi T, Suzuki K, Shimizu Y, Kawakami T, Kanazawa C, Katsuura M, Ikegami T, Hayasaka K. 1998. Severe bleeding tendency in a patient with Bernard-Soulier syndrome associated with a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ibalpha. J Pediatr Hematol Oncol 20:246-251.
78. Moiz B, Rashid A. 2013. BSS misdiagnosed as ITP. Blood 122:1693.
79. Moran N, Morateck PA, Deering A, Ryan M, Montgomery RR, Fitzgerald DJ, Kenny D. 2000. Surface expression of glycoprotein Ib alpha is dependent on glycoprotein Ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome. Blood 96:532-539.
80. Noda M, Fujimura K, Takafuta T, Shimomura T, Fujimoto T, Yamamoto N, Tanoue K, Arai M, Suehiro A, Kakishita E, Shimasaki A, Kuramoto A. 1995. Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities. Thromb Haemost 74:1411-1415.
81. Noda M, Fujimura K, Takafuta T, Shimomura T, Fujii T, Katsutani S, Fujimoto T, Kuramoto A, Yamazaki T, Mochizuki T, Matsuzaki M, Sano M. 1996. A point mutation in glycoprotein IX coding sequence (Cys73 (TGT) to Tyr(TAT)) causes impaired surface expression of GPIb/IX/V complex in two families with Bernard-Soulier syndrome. Thromb Haemost 76:874-878.
82. Noris P, Simsek S, Stibbe J, von dem Borne AE. 1997. A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome. Br J Haematol 97:312-320.
83. Noris P, Arbustini E, Spedini P, Belletti S, Balduini CL. 1998. A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV. Br J Haematol 103:1004-1013.
84. Noris P, Pecci A, Di Bari F, Di Stazio MT, Di Pumpo M, Ceresa IF, 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.
85. 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, et al. 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.
86. Noris P, Klersy C, Gresele P, Giona F, Giordano P, Minuz P, Loffredo G, Pecci A, Melazzini F, Civaschi E, Mezzasoma A, Piedimonte M, et al. Italian Gruppo di Studio delle Piastrine. 2013. Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study. Br J Haematol 162:112-119.
87. Nurden AT, Combrie R, Claeyssens S, Nurden P. 2003. Heterozygotes in the Bernard-Soulier syndrome do not necessarily have giant platelets or thrombocytopenia. Br J Haematol 120:716-717.
88. 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 macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease. Blood 105:4330-4336.
89. Othman M. 2011. Platelet-type Von Willebrand disease: Three decades in the life of a rare bleeding disorder. Blood Rev 25:147-153.
90. Rand ML, Wang H, Bang KW, Teitel JM, Blanchette VS, Freedman J, Nurden AT. 2010. Phosphatidylserine exposure and other apoptotic-like events in Bernard-Soulier syndrome platelets. Am J Hematol 85:584-592.
91. Rivera CE, Villagra J, Riordan M, Williams S, Lindstrom KJ, Rick ME. 2001. Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. Br J Haematol 112:105-108.
92. Rosenberg N, Lalezari S, Landau M, Shenkman B, Seligsohn U, Izraeli S. 2007. Trp207Gly in platelet glycoprotein Ibalpha is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome. J Thromb Haemost 5:378-386.
93. Sachs UJ, Kroll H, Matzdorff AC, Berghofer H, Lopez JA, Santoso S. 2003. Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany. Br J Haematol 123:127-131.
94. Sandrock K, Knöfler R, Greinacher A, Fürll B, Gerisch S, Schuler U, Gehrisch S, Busse A, Zieger B. 2010. Novel mutation in Bernard-Soulier syndrome. Transfus Med Hemother 37:278-284.
95. Sato T, Kunishima S, Shirayama R, Ichikawa S, Sakai M, Kusuhara K. 2014. Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein Ibβ mutation. Acta Haematol 131:46-49.
96. Savoia A, Balduini CL, Savino M, Noris P, Del Vecchio M, Perrotta S, Belletti S, Poggi V, Iolascon A. 2001. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood 97:1330-1335.
97. 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.
98. Simsek S, Admiraal LG, Modderman PW, van der Schoot CE, von dem Borne AE. 1994a. Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome. Thromb Haemost 72:444-449.
99. Simsek S, Noris P, Lozano M, Pico M, von dem Borne AE, Ribera A, Gallardo D. 1994b. Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome. Br J Haematol 88:839-844.
100. Strassel C, Pasquet JM, Alessi MC, Juhan-Vague I, Chambost H Combrie R, Nurden P, Bas MJ, De La Salle C, Cazenave JP, Lanza F, Nurden AT. 2003. A novel missense mutation shows that GPIbbeta has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor. Biochemistry 42:4452-4462.
101. Strassel C, Alessi MC, Juhan-Vague I, Cazenave JP, Lanza F. 2004. A 13 base pair deletion in the GPIbbeta gene in a second unrelated Bernard-Soulier family due to slipped mispairing between direct repeats. J Thromb Haemost 2:1663-1665.
102. Strassel C, David T, Eckly A, Baas MJ, Moog S, Ravanat C, Trzeciak MC, Vinciguerra C, Cazenave JP, Gachet C, Lanza F. 2006. Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells. J Thromb Haemost 4:217-228.
103. Sumitha E, Jayandharan GR, David S, Jacob RR, Sankari Devi G, Bargavi B, Shenbagapriya S, Nair SC, Abraham A, George B, Viswabandya A, Mathews V, et al. 2011. Molecular basis of Bernard-Soulier syndrome in 27 patients from India. J Thromb Haemost 9:1590-1598.
104. Suzuki K, Hayashi T, Yahagi A, Akiba J, Tajima K, Satoh S, Sasaki H. 1997. Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome. Br J Haematol 99:794-800.
105. Suzuki K, Hayashi T, Akiba J, Satoh S, Kato T. 1999. Phenotypic consequence of the gene abnormality in the platelet glycoprotein IX gene observed in a patient with Bernard-Soulier syndrome through mammalian cell expression system. Thromb Res 95:295-302.
106. Takata Y, Kanaji T, Moroi M, Seki R, Sano M, Nakazato S, Sueoka E, Imamura Y, Okamura T. 2012. Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen. Int J Hematol 96:733-742.
107. Tang J, Stern-Nezer S, Liu PC, Matyakhina L, Riordan M, Luban NL, Steinbach PJ, Kaler SG. 2004. Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ib beta impairs assembly of von Willebrand factor receptor. Thromb Haemost 92:75-88.
108. Toyohama T, Nagasaki A, Gushi K, Tamaki K, Masuda M, Takasu N. 2003. Recurrent mutation Trp126> stop of glycoprotein IX in Japanese Bernard-Soulier syndrome. Platelets 14:197-198.
109. Ulsemer P, Lanza F, Baas MJ, Schwartz A, Ravanat C, Briquel ME, Cranmer S, Jackson S, Cazenave JP, de la Salle C. 2000. Role of the leucine-rich domain of platelet GPIbalpha in correct post-translational processing-the Nancy I Bernard-Soulier mutation expressed on CHO cells. Thromb Haemost 84:104-111.
110. Ulsemer U, Strassel C, Baas M-J, Salamero J, Chasserot-Golaz S, Cazenave J-P, de la Salle C, Lanza F. 2001. Biosynthesis and post-translational processing of normal and mutant platelet glycoprotein GPIb-IX. Biochem J 358:295-303.
111. Vanhoorelbeke K, Schlammadinger A, Delville JP, Handsaeme J, Vandecasteele G, Vauterin S, Pradier O, Wijns W, Deckmyn H. 2001. Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard-Soulier syndrome. Platelets 12:114-120.
112. Vettore S, Scandellari R, Moro S, Lombardi AM, Scapin M, Randi ML, Fabris F. 2008a. 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.
113. Vettore S, Scandellari R, Scapin M, Lombardi AM, Duner E, Randi ML, Fabris F. 2008b. A case of Bernard-Soulier syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding. Platelets 19:388-391.
114. Vettore S, Tezza F, Malara A, Vianello F, Pecci A, Scandellari R, Floris M, Balduini A, Fabris F. 2011. A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis. Haematologica 96:1878-1882.
115. Ware J, Russell SR, Vicente V, Scharf RE, Tomer A, McMillan R, Ruggeri ZM. 1990. Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome. Proc Natl Acad Sci USA 87:2026-2030.
116. Ware J, Russell SR, Marchese P, Murata M, Mazzucato M, De Marco L, Ruggeri ZM. 1993. Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome. J Clin Invest 92:1213-1220.
117. Watanabe R, Ishibashi T, Saitoh Y, Shichishima T, Maruyama Y, Enomoto Y, Handa M, Oda A, Ambo H, Murata M, Ikeda Y. 2003. Bernard-Soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib(beta) gene. Blood Coagul Fibrinolysis 14:387-394.
118. Wright SD, Michaelides K, Johnson DJ, West NC, Tuddenham EG. 1993. Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. Blood 81:2339-2347.
119. Xu Wf, Xie Z, Chung DW, Davie EW. 1998. A novel human actin-binding protein homologue that binds to platelet glycoprotein Ibalpha. Blood 92:1268-1276.
120. Xu LM, Sun GB, Wang P, Sun N, Hu QP, Cao FF, Peng B, Zhang DH. 2010. Single novel mutation in transmembrane region of glycoprotein (GP) IX affects GP Ib- IX complex expression and causes Bernard-Soulier syndrome. Br J Haematol 150:627-629.
121. Yamamoto N, Akamatsu N, Sakuraba H, Matsuno K, Hosoya R, Nogami H, Kasahara K, Mitsuyama S, Arai M. 2013. Novel Bernard-Soulier syndrome variants caused by compound heterozygous mutations (case I) or a cytoplasmic tail truncation (case II) of GPIbα.Thromb Res 131:e160-167.
122. Zieger B, Jenny A, Tsakiris DA, Bartsch I, Sandrock K, Schubart C, Schafer S, Busse A, Wuillemin WA. 2009. A large Swiss family with Bernard-Soulier syndrome-Correlation phenotype and genotype. Hamostaseologie 29:161-167.