A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome.
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.
Costa
Daniel B
DB
Division of Hematology/Oncology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA. dbcosta@bidmc.harvard.edu
Fisher
Christopher A
CA
Miller
Kenneth B
KB
Pihan
German A
GA
Steensma
David P
DP
Gibbons
Richard J
RJ
Higgs
Douglas R
DR
D000368:Aged; D004265:DNA Helicases / Q000235:genetics*; D005091:Exons; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D017354:Point Mutation; D000075924:X-linked Nuclear Protein; D017085:alpha-Thalassemia / Q000235:genetics*
D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein