Molecular pathology of Bernard-Soulier syndrome in Indian patients

Platelets

Volumn 24, Issue 7, 2013, Pages 571-573

  Ali, Shahnaz ^a   Ghosh, Kanjaksha ^a   Shetty, Shrimati ^a  

^a KEM HOSPITAL   (India)

Author keywords

Bernard Soulier syndrome; India; Mutations

Indexed keywords

GENOMIC DNA; RISTOCETIN; THROMBIN RECEPTOR;

ADULT; ARTICLE; BERNARD SOULIER DISEASE; BLOOD CLOTTING TEST; BLOOD SMEAR; CHILD; CLINICAL ARTICLE; FEMALE; FLOW CYTOMETRY; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HUMAN; INDIAN; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; THROMBOCYTE COUNT; THROMBOCYTE MEMBRANE;

ADOLESCENT; ADULT; BERNARD-SOULIER SYNDROME; BLOOD PLATELETS; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INDIA; MALE; PATHOLOGY, MOLECULAR; PLATELET AGGREGATION; PLATELET COUNT; YOUNG ADULT;

EID: 84884788071     PISSN: 09537104     EISSN: 13691635     Source Type: Journal    
DOI: 10.3109/09537104.2012.748186     Document Type: Article

References (16)

1. Bernard J. History of congenital hemorrhagic thrombocytopathic dystrophy. Blood Cells 1983;9:170-193
2. Mhawech P, Saleem A. Inherited giant platelet disorders. Classification and literature review. Am J Clin Pathol 2000;113:176-190
3. 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
4. Haffman R. Hematology: Basic principles and practice hematology, 3rd edn. New York, NY: Churchill Livingstone; 2000. pp 2158-2160
5. Wintrobe MM. Clinical hematology, 10th edn. Vol. 2. Philadelphia, PA: Lippincott Williams and Wilkins; 1999. pp 1663-1666
6. Noris P, Perrotta S, Bottega R, Pecci A, Melazzini F, Civaschi E, Russo S, Magrin S, Loffreddo G, Di Salvo V, et al. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb-(Bolzano mutation). Haematologica 2012;97:82-88
7. 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
8. Kunishima S, Lopez JA, Kobayashi S, Imai N, Kamiya T, Saito H, Naoe T. Missense mutations of the glycoprotein (GP)Ib-gene impairing the GPIb-/-disulfide linkage in a family with giant platelet disorder. Blood 1997;89:2404-2412
9. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001;11:863-874
10. Available from: Http://blocks.fhcrc.orrg/sift/SIFT.html. Accessed in December 2012
11. Available from: Http://genetics.bwh.harvard.edu/pph/. Accessed in December 2012
12. Available from: Http://agvgd.iarc.fr/. Accessed in December 2012
13. Rivera CE, Villagra J, Riordan M, Williams S, Lindstrom KJ, Rick ME. Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. Br J Haematol 2001;112:105-108
14. Sumitha E, Jayandharan GR, David S, Jacob RR, Sankari Devi G, Bargavi B, Shenbagapriya S, Nair SC, Abraham A, George B, et al. Molecular basis of Bernard-Soulier syndrome in 27 Patients from India. J Thromb Haemost 2011;9:1590-1598
15. Kanaji T, Okamura T, Kurolwa M, Noda M, Fujimura K, Kuramoto A, Sano M, Nakano S, Niho Y. Molecular and genetic analysis of two patients with Bernard-Soulier syndrome-identification of new mutations in glycoprotein Ib alpha gene. Thromb Haemost 1997;77:1055-1061
16. González-Manchón C, Butta N, Iruin G, Alonso S, Ayuso MS, Parrilla R. 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 2003;90:456-464