A novel nucleotide substitution in the 5′ untranslated region of ANKRD26 gene is associated with inherited thrombocytopenia: a report of two new families
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Inherited thrombocytopenias (IT) constitute a rare etiology of thrombocytopenia and consist of a heterogenous group of hemostatic disorders caused by molecular defects in over 30 genes . Approximately 18% of inherited thrombocytopenias are caused by monoallelic point mutations in ankyrin repeat domain 26 gene (ANKRD26), also termed thrombocytopenia-2 (THC2 OMIM 188000), with autosomal dominant transmission and increased predisposition for myeloid neoplasms . We describe two IT cases presenting during pregnancy, one of whom harbored a novel, pathogenic nucleotide substitution in ANKRD26 gene 5′ untranslated region (UTR).
A 32-year-old woman was evaluated for chronic thrombocytopenia, platelet counts ranging from 39 to 50 × 109/L, associated with easy bruising. Thrombocytopenia had been recognized early during her first pregnancy at age 23, platelet count declining to 21 × 109/L during gestation, without response to high-dose corticosteroids and IVIG for...
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The authors declare that they have no conflicts of interest.
Informed consent was obtained from all individual participants in the study.
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