Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B Gene as cause of glanzmann's thrombasthenia type i

Klinische Padiatrie

Volumn 222, Issue 3, 2010, Pages 150-153

  Vannier, C ^a   Behnisch, W ^b   Bartsch, I ^a   Sandrock, K ^a   Ertle, F ^b   Schmidt, K ^a   Busse, A ^a   Superti Furga, A ^a   Kulozik, A ^b   Santoso, S ^c   Zieger, B ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c JUSTUS LIEBIG UNIVERSITY   (Germany)

Author keywords

Glanzmann's thrombasthenia; Glycoprotein GPIIb IIIa; Novel mutation; Platelet function analyses

Indexed keywords

GLYCOPROTEIN IIB; GLYCOPROTEIN IIIA; FIBRINOGEN RECEPTOR;

AMINO TERMINAL SEQUENCE; ARTICLE; BLOOD CLOTTING PARAMETERS; CASE REPORT; CONTROLLED STUDY; FLOW CYTOMETRY; GENE DELETION; GLANZMANN DISEASE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; MALE; MAMMAL CELL; MOLECULAR GENETICS; NEWBORN; PETECHIA; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; THROMBOCYTE COUNT; ALLELE; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CONSANGUINITY; EXON; FRAMESHIFT MUTATION; GENETICS; GENOTYPE; HETEROZYGOTE DETECTION; HOMOZYGOTE; INFANT; INFANT, PREMATURE, DISEASES; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION; RECESSIVE GENE; THROMBASTHENIA; THROMBOCYTE AGGREGATION;

ALLELES; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXONS; FRAMESHIFT MUTATION; GENES, RECESSIVE; GENOTYPE; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; INFANT, PREMATURE, DISEASES; MALE; PEDIGREE; PLATELET AGGREGATION; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; THROMBASTHENIA;

EID: 77953172509     PISSN: 03008630     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0030-1249064     Document Type: Article

References (14)

1. Basani RB, Vilaire G, Shattil SJ, etal. Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3. Blood 1996 1 167-173
2. Bennett JS, Kolodziej MA, Vilaire G, etal. Determinants of the intracellular fate of truncated forms of the platelet glycoproteins IIb and IIIa. J Biol Chem 1993 5 3580-3585
3. Born GV, Cross MJ. The aggregation of blood platelets. J Physiol 1963 178-195
4. Bray PF, Barsh G, Rosa JP, etal. Physical linkage of the genes for platelet membrane glycoproteins IIb and IIIa. Proc Natl Acad Sci U S A 1988 22 8683-8687
5. Frachet P, Duperray A, Delachanal E, etal. Role of the transmembrane and cytoplasmic domains in the assembly and surface exposure of the platelet integrin GPIIb/IIIa. Biochemistry 1992 8 2408-2415
6. French DL, Seligsohn U. Platelet glycoprotein IIb/IIIa receptors and Glanzmann's thrombasthenia. Arterioscler Thromb Vasc Biol 2000 3 607-610
7. George JN, Caen JP, Nurden AT. Glanzmann's thrombasthenia: the spectrum of clinical disease. Blood 1990 7 1383-1395
8. Gonzalez-Manchon C, Arias-Salgado EG, Butta N, etal. A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense-mediated decay of GPIIb-mRNA, and type II Glanzmann's thrombasthenia. J Thromb Haemost 2003 5 1071-1078
9. Heidenreich R, Eisman R, Surrey S, etal. Organization of the gene for platelet glycoprotein IIb. Biochemistry 1990 5 1232-1244
10. Lahav J, Jurk K, Hess O, etal. Sustained integrin ligation involves extracellular free sulfhydryls and enzymatically catalyzed disulfide exchange. Blood 2002 7 2472-2478
11. Nurden AT. Glanzmann thrombasthenia. Orphanet J Rare Dis 2006 10
12. OToole TE, Loftus JC, Plow EF, etal. Efficient surface expression of platelet GPIIb-IIIa requires both subunits. Blood 1989 1 14-18
13. Santoso S, Kiefel V, Richter IG, etal. A functional platelet fibrinogen receptor with a deletion in the cysteine-rich repeat region of the beta(3) integrin: the Oe(a) alloantigen in neonatal alloimmune thrombocytopenia. Blood 2002 4 1205-1214
14. Wilhide CC, Jin Y, Guo Q, etal. The human integrin beta3 gene is 63 kb and contains a 5-UTR sequence regulating expression. Blood 1997 10 3951-3961