The same genetic defect in three Tunisian families with Bernard Soulier syndrome: A probable founder Stop mutation in GPIbbeta

Annals of Hematology

Volumn 89, Issue 1, 2010, Pages 75-81

  Hadjkacem, Basma ^a   Elleuch, Henda ^b   Trigui, Ramzi ^a   Gargouri, Jalel ^b   Gargouri, Ali Faouzi ^a  

^a CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

^b Centre Regional de Transfusion Sanguine de Sfax   (Tunisia)

Author keywords

Bernard Soulier syndrome; GPIb ; Nonsense mutation; Platelets

Indexed keywords

ASPARTIC ACID; GLYCOPROTEIN; PROTEIN GPIB ALPHA; SERINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BERNARD SOULIER DISEASE; CASE REPORT; CHILD; FAMILY STUDY; FEMALE; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; STOP CODON; TUNISIA;

ADULT; BERNARD-SOULIER SYNDROME; CHILD; CODON, NONSENSE; CODON, TERMINATOR; FEMALE; GENETIC VARIATION; HUMANS; MALE; PEDIGREE; PEPTIDE CHAIN TERMINATION, TRANSLATIONAL; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; SERINE; TUNISIA;

EID: 71449126194     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-009-0763-1     Document Type: Article

References (26)

1. RK Andrews JA López MC Berndt 1997 Molecular mechanisms of platelet adhesion and activation Int J Biochem Cell Biol 29 91 105 10.1016/S1357-2725(96)00122-7 10.1016/S1357-2725(96)00122-7 1:CAS:528: DyaK2sXhvVSisr0%3D 9076944 (Pubitemid 27096422)
2. JA Lopez 1994 The platelet glycoprotein Ib-IX complex Blood Coagul Fibrinolysis 5 97 119 10.1097/00001721-199402000-00013 1:CAS:528:DyaK2MXpvFOi 8180344
3. JA Lopez RK Andrews V Afshar-Kharghan MC Berndt 1998 Bernard-Soulier syndrome Blood 91 4397 4418 1:CAS:528:DyaK1cXjvVGhsb4%3D 9616133
4. JL Miller VA Lyle D Cunningham 1992 Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib-alpha leucine tandem repeat occurring in patients with an autosomal dominant variety of Bernard-Soulier disease Blood 79 439 446 1:STN:280:DyaK387htVGktQ%3D%3D 1730088
5. A Savoia CL Balduini M Savino P Noris M Del Vecchio S Perrotta S Belletti V Poggi A Iolascon 2001 Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome Blood 97 5 1330 1335 10.1182/blood.V97.5.1330 10.1182/blood.V97.5.1330 1:CAS:528: DC%2BD3MXhs12lt7Y%3D 11222377 (Pubitemid 32183756)
6. Lanza F (2006) Hemorrhagiparous thrombocytic dystrophy. Orphanet J Rare Dis 1:46. http://www.orpha.net. doi: 10.1186/1750-1172-1-46
7. C Strassel MC Alessi I Juhan-Vague JP Cazenave F Lanza 2004 A 13 base pair deletion in the GPIbβ gene in a second unrelated Bernard-Soulier family due to slipped mispairing between direct repeats J Thromb Haemost 2 1663 1665 10.1111/j.1538-7836.2004.00895.x 10.1111/j.1538-7836.2004.00895.x 1:CAS:528:DC%2BD2cXosF2rtbc%3D 15333045 (Pubitemid 40186185)
8. ST Wright K Michaelides DJD Johnson NC West EGD Tuddenham 1993 Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome Blood 81 2339 2347 1:STN:280: DyaK3s3ksVChtA%3D%3D 8481514
9. B Hadjkacem H Elleuch J Gargouri A Gargouri 2008 Bernard-Soulier syndrome: novel nonsense mutation in GPIbβ gene affecting GPIb-IX complex expression Ann Hematol 88 5 465 472 10.1007/s00277-008-0611-8 18825380
10. LB Ludlow BP Schick ML Budarf DA Driscoll EH Zackai A Cohen BA Konkle 1996 Identification of a mutation in a GATA binding site of the platelet glycoprotein Ib beta promoter resulting in the Bernard-Soulier syndrome J Biol Chem 271 22076 22080 10.1074/jbc.271.36.22076 10.1074/jbc.271.36.22076 1:CAS:528:DyaK28XlsFKntr8%3D 8703016 (Pubitemid 26303836)
11. C Strassel T David A Eckly MJ Baas S Moog C Ravanat MC Trzeciak C Vinciguerra JP Cazenave C Gachet F Lanza 2006 Synthesis of GPIb with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signalling in CHO cells J Thromb Haemost 4 217 228 10.1111/j.1538-7836.2005.01654.x 10.1111/j.1538-7836.2005.01654.x 1:CAS:528:DC%2BD28Xpt1Wntg%3D%3D 16409472
12. R Watanabe T Ishibashi Y Saitoh T Shichishima Y Maruyama Y Enomoto M Handa A Oda H Ambo M Murata Y Ikeda 2003 Bernard-soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib (beta) gene Blood Coagul Fibrinolysis 14 387 394 10.1097/00001721-200306000-00010 10.1097/00001721-200306000-00010 1:CAS:528:DC%2BD3sXltleju7w%3D 12945881 (Pubitemid 36688193)
13. N Moran PA Morateck A Deering M Ryan RR Montgomery DJ Fitzgerald D Kenny 2000 Surface expression of GPIb alpha is dependent on GPIb beta: evidence from a novel mutation causing Bernard-Soulier syndrome Blood 96 532 539 1:CAS:528:DC%2BD3cXltVGhtbY%3D 10887115
14. G Sae-Tung JF Dong JA López 1996 Biosynthetic defect in platelet glycoprotein IX mutants associated with Bernard-Soulier syndrome Blood 87 4 1361 1367 1:CAS:528:DyaK28XhtVGntbo%3D 8608225
15. S Kunishima JA Lopez S Kobayashi N Imai T Kamiya H Saito T Naoe 1997 Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder Blood 89 2404 2412 1:CAS:528:DyaK2sXitVyisr4%3D 9116284
16. S Kunishima T Yamazaki T Matsushita M Sako M Hamaguchi H Saito 2004 Variant Bernard-Soulier syndrome caused by compound heterozygous mutations in the GPIb beta gene Platelets 15 374 375
17. N Rosenberg S Lalezari M Landau B Shenkman U Seligsohn S Izraeli 2007 Trp207Gly in platelet glycoprotein Ibα is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome J Thromb Haemost 5 378 386 10.1111/j.1538-7836.2007.02298.x 10.1111/j.1538-7836.2007.02298.x 1:CAS:528:DC%2BD2sXis1SgtLo%3D 17083647 (Pubitemid 46139464)
18. JV Antonucci ES Martin PJ Hulick A Joseph SE Martin 2000 Bernard-Soulier syndrome: common ancestry in two African American families with the GP Ib alpha Leu129Pro mutation Am J Hematol 65 2 141 148 10.1002/1096-8652(200010)65: 2<141::AID-AJH9>3.0.CO;2-H 10.1002/1096-8652(200010)65:2<141::AID- AJH9>3.0.CO;2-H 1:CAS:528:DC%2BD3cXntFOjtbs%3D 10996832
19. S Koskela K Javela J Jouppila E Juvonen O Nyblom J Partanen R Kekomäki 1999 Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in eleven patients of five unrelated Finnish families Eur J Haematol 62 256 264 1:CAS:528: DyaK1MXivV2gt7s%3D 10227459
20. C Li SE Martin GJ Roth 1995 The genetic defect in two well-studied cases of Bernard-Soulier syndrome: a point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ibα Blood 86 10 3805 3814 1:CAS:528: DyaK2MXptlWju7s%3D 7579348
21. A Afrasiabi A Lecchi A Artoni M Karimi E Ashouri F Peyvandi PM Mannucci 2007 Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from southern Iran Platelets 18 6 409 413 10.1080/ 09537100701191323 1:CAS:528:DC%2BD2sXps1Gqu70%3D 17763149 (Pubitemid 47347050)
22. Y Kurokawa F Ishida T Kamijo S Kunishima D Kenny K Kitano K Koike 2001 Amissensemutation (Tyr88 to Cys) in the plateletmembrane glycoprotein Ibbeta gene affects GPIb/IX complex expression-Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form Thromb Haemost 86 1249 1256 1:CAS:528:DC%2BD3MXosFyhsL0%3D 11816714
23. UJ Sachs H Kroll AC Matzdorff H Berghöfer JA Löpez S Santoso 2003 Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany Br J Haematol 123 1 127 131 10.1046/j.1365-2141.2003.04554.x 10.1046/j.1365-2141.2003.04554.x 1:CAS:528:DC%2BD3sXoslygt70%3D 14510954 (Pubitemid 37222769)
24. HP Liang MC Morel-Kopp JM Clemetson KJ Clemetson R Kekomaki H Kroll K Michaelides EG Tuddenham K Vanhoorelbeke CM Ward 2005 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 94 599 605 1:CAS:528:DC%2BD2MXhtVaqurrK 16268478
25. S Kunishima Y Tomiyama S Honda Y Kurata T Kamiya O Kazuo H Saito 1999 Cys97Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome Br J Haematol 107 539 545 10.1046/j.1365-2141.1999.01733.x 10.1046/j.1365-2141.1999.01733.x 1:CAS:528:DC%2BD3cXhtlKiug%3D%3D 10583255
26. B HadjKacem J Gargouri A Gargouri 2008 In vitro direct repeats-mediated deletion during PCR amplification Mol Biotechnol 40 1 39 45 10.1007/s12033-008- 9059-2 10.1007/s12033-008-9059-2