Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: Analysis of 78 patients from 21 families

Blood

Volumn 117, Issue 24, 2011, Pages 6673-6680

  Noris, Patrizia ^a   Perrotta, Silverio ^b   Seri, Marco ^c   Pecci, Alessandro ^a   Gnan, Chiara ^d   Loffredo, Giuseppe ^e   Pujol Moix, Nuria ^f   Zecca, Marco ^a   Scognamiglio, Francesca ^g   De Rocco, Daniela ^h   Punzo, Francesca ^b,i   Melazzini, Federica ^a   Scianguetta, Saverio ^b   Casale, Maddalena ^b   Marconi, Caterina ^c   Pippucci, Tommaso ^c   Amendola, Giovanni ^j   Notarangelo, Lucia D ^k   Klersy, Catherine ^a   Civaschi, Elisa ^a   Balduini, Carlo L ^a   Savoia, Anna ^d,h   more..

^a UNIVERSITY OF PAVIA   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d UNIVERSITY OF TRIESTE   (Italy)

^e SANTOBONO PAUSILIPON CHILDREN S HOSPITAL   (Italy)

^f UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^g SAN BORTOLO HOSPITAL   (Italy)

^h INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

ⁱ ERASMUS MEDICAL CENTER   (Netherlands)

^j Hospital Umberto i   (Italy)

^k UNIVERSITY OF BRESCIA   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA2 INTEGRIN; ANKYRIN; ANKYRIN REPEAT DOMAIN PROTEIN 26; HEMOGLOBIN; THROMBOPOIETIN; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLEEDING TENDENCY; BONE MARROW EXAMINATION; CHILD; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; IN VITRO STUDY; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; MEGAKARYOPOIESIS; MEGALOCYTOSIS; PEDIGREE; PRIORITY JOURNAL; SCHOOL CHILD; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; THROMBOCYTOPENIA;

EID: 79959279291     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2011-02-336537     Document Type: Article

References (22)

1. Ballmaier M, Germeshausen M. Advances in the understanding of congenital amegakaryocytic thrombocytopenia. Br J Haematol. 2009; 146(1):3-16.
2. Geddis AE. Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. Hematol Oncol Clin North Am. 2009;23(2): 321-331.
3. Pecci A, Gresele P, Klersy C, et al. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood. 2010;116(26):5832-5837.
4. Owen C. Insights into familial platelet disorder with propensity to myeloid malignancy (FPD/ AML). Leuk Res. 2010;34(2):141-142.
5. Pecci A, Panza E, Pujol-Moix N, et al. Position of nonmuscle myosin heavy chain IIA (NMMHCIIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat. 2008;29(3): 409-417. (Pubitemid 351364943)
6. Pecci A, Granata A, Fiore CE, Balduini CL. Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). Nephrol Dial Transplant. 2008;23(8):2690-2692.
7. Noris P, Pecci A, Di Bari F, et al. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. Haematologica. 2004;89(10):1219-1225. (Pubitemid 39390447)
8. Savoia A, Del Vecchio M, Totaro A, et al. An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p. Am J Hum Genet. 1999;65(5):1401-1405. (Pubitemid 30460391)
9. Drachman JG, Jarvik GP, Mehaffey MG. Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation and linkage to human chromosome 10. Blood. 2000;96(1): 118-125. (Pubitemid 30456459)
10. Gandhi MJ, Cummings CL, Drachman JG. FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10. Hum Hered. 2003;55(1): 66-70. (Pubitemid 36928748)
11. Punzo F, Mientjes EJ, Rohe CF, et al. A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5) identified in autosomal dominant thrombocytopenia. J Thromb Haemost. 2010;8(9):2085-2087.
12. Pippucci T, Savoia A, Perrotta S, et al. Mutations in the 5′-UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet. 2011;88(1):115-120.
13. Provan D, Stasi R, Newland AC, et al. International consensus report on the investigation and management of primary immune thrombocytopenia. Blood. 2010;115(2):168-186.
14. Noris P, Klersy C, Zecca M, et al. Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia. J Thromb Haemost. 2009;7(12):2131-2136.
15. Noris P, Guidetti GF, Conti V, et al. Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia. Thromb Haemost. 2006;95(3):483-489.
16. Kritzik M, Savage B, Nugent DJ, et al. Nucleotide polymorphisms in the α2 gene define multiple alleles that are associated with differences in platelet α2β1 density. Blood. 1998;92(7): 2382-2388. (Pubitemid 28452981)
17. Cerutti A, Custodi P, Duranti M, Cazzola M, Balduini CL. Circulating thrombopoietin in reactive conditions behaves like an acute phase reactant. Clin Lab Haematol. 1999;21(4):271-275. (Pubitemid 29444743)
18. Mardis ER, Ding L, Dooling DJ, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med. 2009;361(11): 1058-1066.
19. Sahab ZJ, Hall MD, Zhang L, Cheema AK, Byers SW. Tumor suppressor RARRES1 regulates DLG2, PP2A, VCP, EB1, and Ankrd26. J Cancer. 2010;1:14-22.
20. Ichikawa N, Ishida F, Shimodaira S, Tahara T, Kato T, Kitano K. Regulation of serum thrombopoietin levels by platelets and megakaryocytes in patients with aplastic anaemia and idiopathic thrombocytopenic purpura. Thromb Haemost. 1996;76(2):156-160. (Pubitemid 26285242)
21. Hou M, Andersson PO, Stockelberg D, Mellqvist UH, Ridell B, Wadenvik H. Plasma thrombopoietin levels in thrombocytopenic states: implication for a regulatory role of bone marrow megakaryocytes. Br J Haematol. 1998;101(3): 420-424. (Pubitemid 28266932)
22. Savoia A, Dufour C, Locatelli F, et al. Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Haematologica. 2007;92(9):1186-1193. (Pubitemid 350144176)