Recombinant Human Ankyrin repeat domain-containing protein 26 (ANKRD26), partial

1. in a cohort of patients with suspected familial thrombocytopenia, the c.-140C>G mutation seems to be the most frequent ANKRD26 mutation. PMID: 28277066
2. Two cases with mutant ANKRD26 highlight that patients with thrombocytopenia 2 are at risk of being misdiagnosed with myelodysplastic syndrome and receiving undue myelosuppressive treatments. Because dysmegakaryopoiesis is a feature also of other forms of inherited thrombocytopenia, a genetic disorder must always be considered when a patient presents with isolated thrombocytopenia and dysmegakaryopoiesis. PMID: 28976612
3. investigation of one patient with the c.3G>A showed that mutation was associated with strong ANKRD26 overexpression in vivo, which is the proposed mechanism for predisposition to AML in THC2 patients PMID: 28100250
4. The findings of lifelong thrombocytopenia with mild/absent bleeding, family history of thrombocytopenia with normal platelet size and myeloid neoplasms should raise the suspicion of ANKRD26 mutated thrombocytopenia. PMID: 27123948
5. Molecular analysis identified a mutation located in the promoter of the ankyrin repeat domain 26 (ANKRD26) gene, c.-127A>T in normocytic thrombocytopenia. PMID: 27108925
6. thrombocytopenia with 5'UTR ANKRD26 gene mutation must be considered in case of a constitutional isolated thrombocytopenia, with a low bleeding tendency, associated with autosomal dominant transmission and normal platelet volume. PMID: 25902755
7. WASP, RUNX1, and ANKRD26 genes are important for normal TPO signaling and the network underlying thrombopoiesis. PMID: 26175287
8. The study supports the association of ANKRD26 mutations with thrombocytopenia 2 and a predisposition to myeloid malignancies. PMID: 24628296
9. ANKRD26 regulatory region mutations induce MAPK hyperactivation in familial thrombocytopenia PMID: 24430186
10. the missense mutations may paly a role in the pathogenesis of Autosomal-dominant nonsyndromic thrombocytopenia-2 PMID: 23869080
11. Studies indicate that ANKRD26-RT is an insidious form of inherited thrombocytopenias that exposes patients to a low risk of bleeding but predisposes them to hematologic myeloid malignancies. PMID: 24030261
12. Ubiquitin/proteasome-rich particulate cytoplasmic structures are a characteristic feature of ANKRD26-related thrombocytopenia platelets and megakaryocytes. PMID: 23223974
13. The ANKRD26-related thrombocytopenia has to be taken into consideration in the differential diagnosis of isolated thrombocytopenias. PMID: 21467542
14. mutations in the 5' UTR of ANKRD26 are implicated in thrombocytopenia 2. PMID: 21211618

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HGNC: 29186

OMIM: 188000

KEGG: hsa:22852

STRING: 9606.ENSP00000365255

UniGene: Hs.361041