References
Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, Maris JM et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet 2000; 24: 266–270.
Mehaffey MG, Newton AL, Gandhi MJ, Crossley M, Drachman JG . X-linked thrombocytopenia caused by a novel mutation of GATA-1. Blood 2001; 98: 2681–2688.
Del Vecchio GC, Giordani L, De Santis A, De Mattia D . Dyserythropoietic anemia and thrombocytopenia due to a novel mutation in GATA-1. Acta Haematol 2005; 114: 113–116.
Yu C, Niakan KK, Matsushita M, Stamatoyannopoulos G, Orkin SH, Raskind WH . X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood 2002; 100: 2040–2045.
Balduini CL, Pecci A, Loffredo G, Izzo P, Noris P, Grosso M et al. Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis. Thromb Haemost 2004; 91: 129–140.
Tubman VN, Levine JE, Campagna DR, Monahan-Earley R, Dvorak AM, Neufeld EJ et al. X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. Blood 2007; 109: 3297–3299.
Phillips JD, Steensma DP, Pulsipher MA, Spangrude GJ, Kushner JP . Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood 2007; 109: 2618–2621.
Freson K, Devriendt K, Matthijs G, Van Hoof A, De Vos R, Thys C et al. Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. Blood 2001; 98: 85–92.
Freson K, Matthijs G, Thys C, Marien P, Hoylaerts MF, Vermylen J et al. Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. Hum Mol Genet 2002; 11: 147–152.
Hollanda LM, Lima CS, Cunha AF, Albuquerque DM, Vassallo J, Ozelo MC et al. An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. Nat Genet 2006; 38: 807–812.
Acknowledgements
We thank Cornelia Klein for technical assistance.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kratz, C., Niemeyer, C., Karow, A. et al. Congenital transfusion-dependent anemia and thrombocytopenia with myelodysplasia due to a recurrent GATA1G208R germline mutation. Leukemia 22, 432–434 (2008). https://doi.org/10.1038/sj.leu.2404904
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.leu.2404904
- Springer Nature Limited
This article is cited by
-
Kongenitales Knochenmarkversagen
Monatsschrift Kinderheilkunde (2015)
-
Long-term outcome of hemizygous and heterozygous carriers of a germline GATA1 G208R mutation
Annals of Hematology (2011)