First Turkish case of Bernard-Soulier syndrome associated with GPIX N45S

Acta Haematologica

Volumn 118, Issue 3, 2007, Pages 146-148

  Daǧistan, Necati ^a   Kunishima, Shinji ^b  

^a Gölcük Military Hospital   (Turkey)

^b NATIONAL HOSPITAL ORGANIZATION   (Japan)

Author keywords

Bernard Soulier syndrome; GPIb IX V complex; Macrothrombocytopenia

Indexed keywords

GLYCOPROTEIN; GLYCOPROTEIN IB ALPHA; GLYCOPROTEIN IX; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BERNARD SOULIER DISEASE; CASE REPORT; DNA SEQUENCE; FLOW CYTOMETRY; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; TURKEY (REPUBLIC);

ADULT; AMINO ACID SUBSTITUTION; BERNARD-SOULIER SYNDROME; BLEEDING TIME; BLOOD PLATELETS; CELL SIZE; HUMANS; MALE; MUTATION, MISSENSE; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; PLATELET MEMBRANE GLYCOPROTEINS; RECEPTORS, CELL SURFACE; THROMBOCYTOPENIA; TURKEY;

EID: 35548962362     PISSN: 00015792     EISSN: None     Source Type: Journal    
DOI: 10.1159/000107926     Document Type: Article

References (14)

1. Kunishima S, Kamiya T, Saito H: Genetic abnormalities of Bernard-Soulier syndrome. Int J Hematol 2002;76:319-327.
2. Kunishima S, Saito H: Congenital macrothrombocytopenias. Blood Rev 2006;20:111-121.
3. Lanza F: Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy). Orphanet J Rare Dis 2006;1:46.
4. Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC: Bernard-Soulier syndrome. Blood 1998;91:4397-4418.
5. Berndt MC, Shen Y, Dopheide SM, Gardiner EE, Andrews RK: The vascular biology of the glycoprotein Ib-IX-V complex. Thromb Haemost 2001;86:178-188.
6. Lopez JA: The platelet glycoprotein Ib-IX complex. Blood Coagul Fibrinolysis 1994;5:97-119.
7. Liang HP, Morel-Kopp MC, Clemetson JM, Clemetson KJ, Kekomaki R, Kroll H, Michaelides K, Tuddenham EG, Vanhoorelbeke K, Ward CM: 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 2005;94:599-605.
8. Kunishima S, Lopez JA, Kobayashi S, Imai N, Kamiya T, Saito H, Naoe T: Missense mutations of the glycoprotein (GP) Ibb gene impairing the GPIb α/b disulfide linkage in a family with giant platelet disorder. Blood 1997;89:2404-2412.
9. Kunishima S, Miura H, Fukutani H, Yoshida H, Osumi K, Kobayashi S, Ohno R, Naoe T: Bernard-Soulier syndrome Kagoshima: Ser 444→stop mutation of glycoprotein (GP) Ibα resulting in circulating truncated GPIbα and surface expression of GPIbβ and GPIX. Blood 1994;84:3356-3362.
10. Wright SD, Michaelides K, Johnson DJ, West NC, Tuddenham EG: Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. Blood 1993;81:2339-2347.
11. Sae-Tung G, Dong JF, Lopez JA: Biosynthetic defect in platelet glycoprotein IX mutants associated with Bernard-Soulier syndrome. Blood 1996;87:1361-1367.
12. Donner M, Karpman D, Kristoffersson AC, Winqvist I, Holmberg L: Recurrent mutation Asn45→Ser of glycoprotein ix in Bernard-Soulier syndrome. Eur J Haematol 1996;57:178-179.
13. Koskela S, Javela K, Jouppila J, Juvonen E, Nyblom O, Partanen J, Kekomaki R: 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 1999;62:256-264.
14. Okan V, Araz M, Camci C, Aktaran S, Sahin A, Buyukberber S, Bakir K, Cakmak EA: Bernard-Soulier syndrome in a Turkish family. Int J Clin Pract 2002;56:546-548.