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A novel mutation in the last exon of ATRX in a patient with α-thalassemia myelodysplastic syndrome

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Costa DB, Fisher CA, Miller KB, Pihan GA, Steensma DP, Gibbons RJ, Higgs DR. A novel mutation in the last exon of ATRX in a patient with α-thalassemia myelodysplastic syndrome 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 (CGA→TGA 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: ATRX; acquired thalassemia; alpha-thalassemia myelodysplastic syndrome; chromatin remodeling factors; myelodysplastic syndrome

Document Type: Research Article

Affiliations: 1: Division of Hematology/Oncology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA 2: MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK 3: Division of Hematology, Mayo Clinic College of Medicine, Rochester, MN, USA

Publication date: May 1, 2006

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