Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran

Platelets

Volumn 18, Issue 6, 2007, Pages 409-413

  Afrasiabi, A ^a   Lecchi, A ^b   Artoni, A ^b   Karimi, M ^a   Ashouri, E ^c   Peyvandi, F ^a   Mannucci, P M ^b  

^a SHIRAZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c SHIRAZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Bernard Soulier syndrome; Genetic analysis; Heterozygous carrier

Indexed keywords

GLYCOPROTEIN; GLYCOPROTEIN IB ALPHA; GLYCOPROTEIN IX; PHENYLALANINE; SERINE; THROMBOCYTE RECEPTOR; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR RECEPTOR;

ARTICLE; BERNARD SOULIER DISEASE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; FLOW CYTOMETRY; FRAMESHIFT MUTATION; GENE INSERTION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HUMAN CELL; IRAN; IRON DEFICIENCY ANEMIA; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RELATIVE; SKIN BLEEDING; THROMBOCYTE COUNT; THROMBOCYTOPENIA;

BERNARD-SOULIER SYNDROME; BLOOD PLATELETS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FRAMESHIFT MUTATION; HUMANS; IRAN; MUTATION; MUTATION, MISSENSE; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; PLATELET MEMBRANE GLYCOPROTEINS; RECEPTORS, CELL SURFACE; THROMBOCYTOPENIA;

EID: 34548295151     PISSN: 09537104     EISSN: 13691635     Source Type: Journal    
DOI: 10.1080/09537100701191323     Document Type: Article

References (9)

1. Balduini CL, Iolascon A, Savoia A. Inherited thrombocytopenias: From genes to therapy. Haematologica 2002;87:860-880.
2. George JN, Reimann TA, Moake JL, Morgan RK, Cimo PL, Sears DA. Bernard-Soulier disease: A study of four patients and their parents. Br J Haematol 1981;48:459-467.
3. Savoia A, Balduini CL, Savino M, Noris P, Del Vecchio M, Perrotta S, Belletti S, Poggi, Iolascon A. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood 2001;97:1330-1335.
4. Afrasiabi A, Artoni A, Karimi M, Peyvandi F, Ashouri E, Mannucci PM. Glanzmann thrombasthenia and Bernard-Soulier syndrome in south Iran. Clin Lab Haematol 2005;27:324-327.
5. Afshar-Kharghan V, Li CQ, Khoshnevis-Asl M, Lopez JA. 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 1999;94:186-191.
6. Suzuki K, Hayashi T, Yahagi A, Akiba J, Tajima K, Satoh S, Sasaki H. Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome. Br J Haematol 1997;99:794-800.
7. Noris P, Simsek S, Stibbe J, von dem Borne AE. 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 1997;97:312-320.
8. Suzuki K, Hayashi T, Akiba J, Satoh S, Kato T. 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 1999;95:295-302.
9. Sachs UJ, Kroll H, Matzdorff AC, Berghofer H, Lopez JA, Santoso S. Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: An unexpected, frequent finding in Germany. Br J Haematol 2003;123:127-131.