Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases

• Published in: Platelets (Edinburgh) Vol. 33; no. 8; pp. 1107 - 1112
• Main Authors: Vyas, Hrushikesh, Alcheikh, Ahmad, Lowe, Gillian, Stevenson, William S, Morgan, Neil V, Rabbolini, David J
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 17.11.2022; Taylor & Francis Group
• Subjects: 5' Untranslated Regions; ANKRD26; Collection; Genetic Predisposition to Disease; Humans; inherited thrombocytopenia AML; Intercellular Signaling Peptides and Proteins - genetics; MDS; Mutation; platelet disorder; Prevalence; thrombocytopenia; Thrombocytopenia - genetics; Thrombocytopenia - pathology; Transcription Factors - genetics; platelet disorder; ANKRD26; inherited thrombocytopenia AML; thrombocytopenia; MDS

ANKRD26 is a highly conserved gene located on chromosome 10p12.1 which has shown to play a role in normal megakaryocyte differentiation. ANKRD26-related thrombocytopenia, or thrombocytopenia 2, is an inherited thrombocytopenia with mild bleeding diathesis resulting from point mutations the 5ʹUTR of...