A novel nucleotide substitution in the 5′ untranslated region of ANKRD26 gene is associated with inherited thrombocytopenia: a report of two new families-Reference-Cited by-同舟云学术

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

Published:2019-02-12 Issue:7 Volume:98 Page:1789-1791
ISSN:0939-5555
Container-title:Annals of Hematology
language:en
Short-container-title:Ann Hematol

Author:

Diep Robert T.,Corey Kristin,Arcasoy Murat O.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Hematology,General Medicine

Link

http://link.springer.com/article/10.1007/s00277-019-03632-y/fulltext.html

Reference14 articles.

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

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

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

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

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

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1. Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5’UTR variants in three-generational pedigree;Platelets;2024-08-30

2. Analysis of clinical characteristics and treatment efficacy in two pediatric cases of ANKRD26 -related thrombocytopenia;Platelets;2023-10-18

3. Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases;Platelets;2022-05-19

4. A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review;Frontiers in Genetics;2020-04-15

5. Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome;Journal of Investigative Medicine High Impact Case Reports;2020-01