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ACTN1 mutations cause congenital macrothrombocytopenia.
Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, Iguchi A, Niimi G, Otsu M, Takahashi Y, Miyano S, Saito H, Kojima S, Ogawa S. Kunishima S, et al. Am J Hum Genet. 2013 Mar 7;92(3):431-8. doi: 10.1016/j.ajhg.2013.01.015. Epub 2013 Feb 21. Am J Hum Genet. 2013. PMID: 23434115 Free PMC article.
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
Guéguen P, Rouault K, Chen JM, Raguénès O, Fichou Y, Hardy E, Gobin E, Pan-Petesch B, Kerbiriou M, Trouvé P, Marcorelles P, Abgrall JF, Le Maréchal C, Férec C. Guéguen P, et al. PLoS One. 2013 Sep 17;8(9):e74728. doi: 10.1371/journal.pone.0074728. eCollection 2013. PLoS One. 2013. PMID: 24069336 Free PMC article.