Skip to main content

Advertisement

Log in

A novel nucleotide substitution in the 5′ untranslated region of ANKRD26 gene is associated with inherited thrombocytopenia: a report of two new families

  • Letter to the Editor
  • Published:
Annals of Hematology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  1. Balduini A, Raslova H, Di Buduo CA, Donada A, Ballmaier M, Germeshausen M, Balduini CL (2018) Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related thrombocytopenia and MYH9-related diseases. Eur J Med Genet 61(11):715–722. https://doi.org/10.1016/j.ejmg.2018.01.014

    Article  PubMed  Google Scholar 

  2. Noris P, Pecci A (2017) Hereditary thrombocytopenias: a growing list of disorders. Hematology Am Soc Hematol Educ Program 2017(1):385–399. https://doi.org/10.1182/asheducation-2017.1.385

    Article  PubMed  PubMed Central  Google Scholar 

  3. Noris P, Perrotta S, Seri M, Pecci A, Gnan C, Loffredo G, Pujol-Moix N, Zecca M, Scognamiglio F, De Rocco D, Punzo F, Melazzini F, Scianguetta S, Casale M, Marconi C, Pippucci T, Amendola G, Notarangelo LD, Klersy C, Civaschi E, Balduini CL, Savoia A (2011) Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 117(24):6673–6680. https://doi.org/10.1182/blood-2011-02-336537

    Article  CAS  PubMed  Google Scholar 

  4. Noris P, Biino G, Pecci A, Civaschi E, Savoia A, Seri M, Melazzini F, Loffredo G, Russo G, Bozzi V, Notarangelo LD, Gresele P, Heller PG, Pujol-Moix N, Kunishima S, Cattaneo M, Bussel J, De Candia E, Cagioni C, Ramenghi U, Barozzi S, Fabris F, Balduini CL (2014) Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. Blood 124(6):e4–e10. https://doi.org/10.1182/blood-2014-03-564328

    Article  PubMed  PubMed Central  Google Scholar 

  5. Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S, Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL (2011) 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 88(1):115–120. https://doi.org/10.1016/j.ajhg.2010.12.006

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Noris P, Favier R, Alessi MC, Geddis AE, Kunishima S, Heller PG, Giordano P, Niederhoffer KY, Bussel JB, Podda GM, Vianelli N, Kersseboom R, Pecci A, Gnan C, Marconi C, Auvrignon A, Cohen W, Yu JC, Iguchi A, Miller Imahiyerobo A, Boehlen F, Ghalloussi D, De Rocco D, Magini P, Civaschi E, Biino G, Seri M, Savoia A, Balduini CL (2013) ANKRD26-related thrombocytopenia and myeloid malignancies. Blood 122(11):1987–1989. https://doi.org/10.1182/blood-2013-04-499319

    Article  CAS  PubMed  Google Scholar 

  7. Marquez R, Hantel A, Lorenz R, Neistadt B, Wong J, Churpek JE, Mardini NA, Shaukat I, Gurbuxani S, Miller JL, Godley LA (2014) A new family with a germline ANKRD26 mutation and predisposition to myeloid malignancies. Leuk Lymphoma 55(12):2945–2946. https://doi.org/10.3109/10428194.2014.903476

    Article  PubMed  PubMed Central  Google Scholar 

  8. Boutroux H, Petit A, Auvrignon A, Lapillonne H, Ballerini P, Favier R, Leverger G (2015) Childhood diagnosis of genetic thrombocytopenia with mutation in the ankyrine repeat domain 26 gene. Eur J Pediatr 174(10):1399–1403. https://doi.org/10.1007/s00431-015-2549-x

    Article  CAS  PubMed  Google Scholar 

  9. Perez Botero J, Chen D, He R, Viswanatha DS, Majerus JA, Coon LM, Nguyen PL, Reichard KK, Oliveira JL, Tefferi A, Gangat N, Pruthi RK, Patnaik MM (2016) Clinical and laboratory characteristics in congenital ANKRD26 mutation-associated thrombocytopenia: a detailed phenotypic study of a family. Platelets 27(7):712–715. https://doi.org/10.3109/09537104.2016.1171305

    Article  CAS  PubMed  Google Scholar 

  10. Ferrari S, Lombardi AM, Putti MC, Bertomoro A, Cortella I, Barzon I, Girolami A, Fabris F (2017) Spectrum of 5'UTR mutations in ANKRD26 gene in patients with inherited thrombocytopenia: c.-140C>G mutation is more frequent than expected. Platelets 28(6):621–624. https://doi.org/10.1080/09537104.2016.1267337

    Article  CAS  PubMed  Google Scholar 

  11. Bluteau D, Balduini A, Balayn N, Currao M, Nurden P, Deswarte C, Leverger G, Noris P, Perrotta S, Solary E, Vainchenker W, Debili N, Favier R, Raslova H (2014) Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation. J Clin Invest 124(2):580–591. https://doi.org/10.1172/JCI71861

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW (2016) The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 127(20):2391–2405. https://doi.org/10.1182/blood-2016-03-643544

    Article  CAS  PubMed  Google Scholar 

  13. Fiore M, Saut N, Alessi MC, Viallard JF (2016) Successful use of eltrombopag for surgical preparation in a patient with ANKRD26-related thrombocytopenia. Platelets 27(8):828–829. https://doi.org/10.1080/09537104.2016.1190446

    Article  CAS  PubMed  Google Scholar 

  14. Pecci A, Gresele P, Klersy C, Savoia A, Noris P, Fierro T, Bozzi V, Mezzasoma AM, Melazzini F, Balduini CL (2010) Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood 116(26):5832–5837. https://doi.org/10.1182/blood-2010-08-304725

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Murat O. Arcasoy.

Ethics declarations

Conflict of interest

The authors declare that they have no conflicts of interest.

Informed consent

Informed consent was obtained from all individual participants in the study.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Diep, R.T., Corey, K. & Arcasoy, M.O. A novel nucleotide substitution in the 5′ untranslated region of ANKRD26 gene is associated with inherited thrombocytopenia: a report of two new families. Ann Hematol 98, 1789–1791 (2019). https://doi.org/10.1007/s00277-019-03632-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00277-019-03632-y

Navigation