Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura

Danny Kanhai, René Mulder, Hans Kristian Ploos van Amstel, Roger Schutgens, Michael Lukens, Rienk Y J Tamminga

    Research output: Contribution to journalArticleAcademicpeer-review


    Congenital thrombocytopenia can easily be misdiagnosed as immune thrombocytopenic purpura, as is illustrated by this case of a woman and her two children. Doubts arose when steroid/IVIG therapy failed in the mother and the thrombocytopenia in the children persisted. By means ofnext-generation sequencing, two missense variants in cis in the ACTN1 gene of the affected family members were identified, both of unknown significance. We conclude, after further analysis of these mutations with, among others, in silico prediction tools, that the thrombocytopenia has a genetic cause, in particular the ACTN1 mutations, and is not immune mediated.

    Original languageEnglish
    Article number27418
    Number of pages3
    JournalPediatric blood & cancer
    Issue number12
    Early online date19-Aug-2018
    Publication statusPublished - Dec-2018


    • actinin 1
    • ACTN1
    • congenital macrothrombocytopenia
    • ITP
    • next-generation sequencing
    • ADULTS

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