Type I Glanzmann thrombasthenia caused by an apparently silent β3 mutation that results in aberrant splicing and reduced β3 mRNA

Thrombosis and Haemostasis

Volumn 93, Issue 5, 2005, Pages 897-903

  Xie, Jingli ^a   Pabón, Dina ^a   Jayo, Asier ^a   Butta, Nora ^a   González Manchón, Consuelo ^a  

^a CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

Author keywords

IIb 3; Platelets; Splicing mutation; Thrombasthenia

Indexed keywords

AMINO ACID; DNA FRAGMENT; FIBRINOGEN RECEPTOR; GLYCOPROTEIN; MESSENGER RNA; NUCLEOTIDE;

ARTICLE; CASE REPORT; CONSENSUS SEQUENCE; CONTROLLED STUDY; EXON; FLOW CYTOMETRY; GENE MUTATION; GLANZMANN DISEASE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN CONTENT; RNA SEQUENCE; RNA SPLICING; STOP CODON; THROMBOCYTE MEMBRANE;

ALLELES; ALTERNATIVE SPLICING; ANIMALS; ANTIBODIES, MONOCLONAL; BLOOD PLATELETS; CHILD, PRESCHOOL; CHO CELLS; CODON, NONSENSE; CODON, TERMINATOR; CRICETINAE; DNA; EXONS; FAMILY HEALTH; FATHERS; FEMALE; FIBRINOGEN; FLOW CYTOMETRY; FRAMESHIFT MUTATION; GENETIC TECHNIQUES; HOMOZYGOTE; HUMANS; IMMUNOPRECIPITATION; INTEGRIN BETA3; MALE; MICE; MODELS, GENETIC; MOTHERS; MUTATION; PHENOTYPE; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; THROMBASTHENIA;

EID: 18844417181     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH04-09-0633     Document Type: Article

References (35)

1. Caen JP. Glanzmann's thrombasthenia. Clin Haematol 1972; 1: 383-92.
2. George JN, Caen JP, Nurden AT. Glanzmann's thrombasthenia: the spectrum of clinical disease. Blood 1990; 75: 1383-95.
3. Nurden AT, Caen JP. Specific roles for platelet surface glycoproteins in platelet functions. Nature 1975; 255: 720-2.
4. Pytela RP, Pierschbacher MD, Ginsberg MH, et al. Platelet membrane glycoprotein IIb-IIIa: Member of a family of Arg-Gly-Asp-specific adhesion receptors. Science 1986; 231: 1559-62.
5. Phillips DR, Charo IF, Scarborough RM. GPIIb-IIIa. The responsive integrin. Cell 1991; 65: 359-62.
6. http://sinaicentral.mssm.edu/intranet/research/glanzmann
7. http://www.uwcm.ac.uk/uwcm/mg/hgmd0.html
8. French DL. The molecular genetics of Glanzmann's thrombasthenia. Platelets 1998; 9: 5-20.
9. Bellucci S, Caen J. Molecular basis of Glanzmann's thrombasthenia and current strategies in treatment. Blood Rev 2002; 16: 193-202.
10. Ferrer M, Tao J, Iruín G, et al. Truncation of glycoprotein (GP) IIIa (Δ 616-762) prevents complex formation with GPIIb: novel mutation in exon 11 of GPIIIa associated with thrombasthenia. Blood 1998; 92: 4712-20.
11. González-Manchón C, Fernández-Pinel M, Arias-Salgado EG, et al. Molecular genetic analysis of a compound heterozygote for the GPIIb gene associated with Glanzmann's trombasthenia. Disruption of the 674-687 disulfide bridge in GPIIb prevents surface expression of GPIIb-IIIa. Blood 1999; 93: 866-75.
12. Kiyoi T, Tomiyama Y, Honda S, et al. A naturally occurring Tyr143HisαIIb mutation abolishes αIIbβ3 function for soluble ligands but retains its ability for mediating cell adhesion and clot retraction: comparison with other mutations causing ligand-binding defects. Blood 2003; 101: 3485-91.
13. Kato A, Yamamoto K, Miazaki S, et al. Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: A proposal for classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex. Blood 1992; 79: 3212-8.
14. Peretz H, Rosenberg N, Usher S, et al. Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene. Blood 1995; 85: 414-20.
15. González-Manchón C, Arias-Salgado EG, Butta N, et al. 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, 1: 1071-8.
16. French DL, Coller BS. Hematologically important mutations: Glanzmann thrombasthenia. Blood Cells Mol Dis 1996; 23: 39-51.
17. Jin Y, Dietz HC, Montgomery RA, et al. Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection. J Clin Invest 1996; 98: 1745-54.
18. Osborn MJ, Upadhyaya M. Evaluation of the protein truncation test and mutation detection in the NF1 gene. Mutational analysis of 15 known and 40 unknown mutations. Hum Genet 1999; 105: 327-32.
19. Teraoka SN, Telatar M, Becker-Catania S, et al. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am J Hum Genet 1999; 64: 1617-31.
20. Arias- Salgado EG, Butta N, González-Manchón C, et al. Competition between normal [674C] and mutant [674R]GPIIb subunits: role of the molecular chaperone BiP in the processing of GPIIb-IIIa complexes. Blood 2001; 97: 2640-47.
21. Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987; 162: 156-9.
22. Tao J, Arias-Salgado EG, González-Manchón C, et al. A novel [288delC] mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia. Br J Haematol 2000; 111: 96-103.
23. Splice View. On line program for splice prediction by using consensus sequences. http://125.itba.mi.cnr.it/webgene/wwwspliceview.html
24. Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes. Sequence statistics and functional implications in gene expression. Nucleic Acids Res 1987, 15: 7155-74.
25. Maquat LE. When cells stop making sense: effect of nonsense codons on RNA metabolism in vertebrate cells. RNA 1995, 1: 453-65.
26. Holbrook JA, Neu-Yilik G, Hentze MW, et al. Nonsense-mediated decay approaches the clinic. Nat Genet 2004; 36: 801-8.
27. Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 2004; 5: 89-99.
28. Danckwardt S, Neu-Yilik G, Thermann R, et al. Abnormally spliced beta-globin mRNAs. A single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay. Blood 2002; 99: 1811-6.
29. Kerr TP, Sewry CA, Robb SA, et al. Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay? Hum Genet 2001; 109: 402-7.
30. Butta N, Arias-Salgado EG, González-Manchón C, et al. Disruption of the β3 663-687 disulfide bridge confers constitutive activity to β3 integrins. Blood 2003; 102: 2491-7.
31. Nurden AT, Rosa J-P, Fournier D, et al. A variant of glanzmann's thrombasthenia with abnormal glycoprotein IIb-IIIa complexes in the platelet membrane. J Clin Invest 1987; 79: 962-9.
32. Westrup D, Santoso S, Follert-Hagendorff K, et al. Glanzmann thrombasthenia Frankfurt I is associated with a point mutation Thr176Ile in the N-terminal region of ?IIb subunit integrin. Thromb Haemost 2004, 92: 1040-51.
33. Liu HX, Cartegni L, Zhang MQ, et al. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet 2001; 27: 55-8.
34. Ars E, Serra E, García J, et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet 2000; 9: 237-47.
35. Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rew Genet 2002; 3: 285-98.