A novel mutation in the last exon of ATRX in a patient with α-thalassemia myelodysplastic syndrome |
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| Authors: | Daniel B. Costa Christopher A. Fisher Kenneth B. Miller German A. Pihan David P. Steensma Richard J. Gibbons Douglas R. Higgs |
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| Affiliation: | Division of Hematology/Oncology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA;;MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK;;Division of Hematology, Mayo Clinic College of Medicine, Rochester, MN, USA |
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| Abstract: | Abstract: We describe a patient with acquired alpha-thalassemia myelodysplastic syndrome (ATMDS). A previously healthy 66-year-old man presented with hemoglobin of 9.3 g/dL, mean corpuscular volume 59 fL, and a bone marrow aspirate with increased erythroid precursors and hypolobulated megakaryocytes. Hemoglobin H inclusions were seen in most red cells after 1% brilliant cresyl blue supravital stain of the peripheral blood. At the molecular level, we identified of a novel mutation in the most 3' exon of the ATRX gene ( C GA→ T GA substitution in codon 2407) resulting in a premature termination codon (p.R2407X). This case provides further evidence for a link between ATRX mutations and ATMDS, and suggests a possible role for the conserved Q-box element in ATRX function. |
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| Keywords: | acquired thalassemia myelodysplastic syndrome ATRX chromatin remodeling factors alpha-thalassemia myelodysplastic syndrome |
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