Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion

Pediatrics International

Volumn 55, Issue 4, 2013, Pages 434-437

  Kunishima, Shinji ^a   Imai, Tsuyoshi ^b   Kobayashi, Ryoji ^c   Kato, Motohiro ^d   Ogawa, Seishi ^d   Saito, Hidehiko ^a  

^a NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

^b OTSU RED CROSS HOSPITAL   (Japan)

^c SAPPORO HOKUYU HOSPITAL   (Japan)

^d UNIVERSITY OF TOKYO HOSPITAL   (Japan)

Author keywords

22q11.2DS; Bernard Soulier syndrome; GPIb ; GPIb IX V; macrothrombocytopenia

Indexed keywords

GLYCOPROTEIN; GLYCOPROTEIN IB ALPHA; GLYCOPROTEIN IB BETA; IMMUNOGLOBULIN; THROMBIN RECEPTOR; UNCLASSIFIED DRUG;

ARTICLE; BERNARD SOULIER DISEASE; BLEEDING; BLEEDING TENDENCY; BLEEDING TIME; BONE MARROW BIOPSY; CASE REPORT; CHILD; CHROMOSOME 22; CHROMOSOME DELETION 22Q11; CLEFT PALATE; DEVELOPMENTAL DISORDER; DNA SEQUENCE; EPISTAXIS; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DOSAGE; GENETIC ANALYSIS; HEART DISEASE; HEMIZYGOSITY; HUMAN; HYPOCALCEMIA; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IMMUNE DEFICIENCY; LACERATION; MEGAKARYOCYTE; NEONATAL ALLOIMMUNE THROMBOCYTOPENIA; PALATOPHARYNGEAL INCOMPETENCE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE COUNT; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA; VARIABLE NUMBER OF TANDEM REPEAT;

22Q11.2DS; BERNARD-SOULIER SYNDROME; GPIB/IX/V; GPIBΒ; MACROTHROMBOCYTOPENIA;

BERNARD-SOULIER SYNDROME; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; FEMALE; HEMIZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MUTATION; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; SEQUENCE ANALYSIS, DNA;

EID: 84881452649     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/ped.12105     Document Type: Article

References (13)

1. Berndt MC, Andrews RK,. Bernard-Soulier syndrome. Haematologica 2011; 96: 355-359.
2. Kunishima S, Kamiya T, Saito H,. Genetic abnormalities of Bernard-Soulier syndrome. Int. J. Hematol. 2002; 76: 319-327.
3. Andrews RK, Gardiner EE, Shen Y, Whisstock JC, Berndt MC,. Glycoprotein Ib-IX-V. Int. J. Biochem. Cell Biol. 2003; 35: 1170-1174.
4. McDonald-McGinn DM, Sullivan KE,. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore) 2011; 90: 1-18.
5. Kunishima S, Lopez JA, Kobayashi S, et al. Missense mutations of the glycoprotein (GP) Ibβ gene impairing the GPIb α/β disulfide linkage in a family with giant platelet disorder. Blood 1997; 89: 2404-2412.
6. Kunishima S, Matsushita T, Ito T, Kamiya T, Saito H,. Novel nonsense mutation in the platelet glycoprotein Ibβ gene associated with Bernard-Soulier syndrome. Am. J. Hematol. 2002; 71: 279-284.
7. Kunishima S, Heaton DC, Naoe T, et al. De novo mutation of the platelet glycoprotein Ibα gene in a patient with pseudo-von Willebrand disease. Blood Coagul Fibrinolysis. 1997; 8: 311-315.
8. Budarf ML, Konkle BA, Ludlow LB, et al. Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. Hum. Mol. Genet. 1995; 4: 763-766.
9. Hillmann A, Nurden A, Nurden P, et al. A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibβ-platelet characterization and transfection studies. Thromb. Haemost. 2002; 88: 1026-1032.
10. Ludlow LB, Schick BP, Budarf ML, et al. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibβ promoter resulting in the Bernard-Soulier syndrome. J. Biol. Chem. 1996; 271: 22076-22080.
11. Tang J, Stern-Nezer S, Liu PC, et al. Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ibβ impairs assembly of von Willebrand factor receptor. Thromb. Haemost. 2004; 92: 75-88.
12. Kenny D, Morateck PA, Gill JC, Montgomery RR,. The critical interaction of glycoprotein (GP) Ibβ with GPIX: a genetic cause of Bernard-Soulier syndrome. Blood 1999; 93: 2968-2975.
13. Bittel DC, Yu S, Newkirk H, et al. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. Cytogenet. Genome Res. 2009; 124: 113-120.