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Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia
  1. Maartje Nielsen1,
  2. Clementien L Vermont2,
  3. Emmelien Aten1,
  4. Claudia A L Ruivenkamp1,
  5. Femke van Herrewegen3,
  6. Gijs W E Santen1,
  7. Martijn H Breuning1
  1. 1Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
  2. 2Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
  3. 3Department of Pediatric Hematology, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands
  1. Correspondence to Maartje Nielsen, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Albinusdreef 2, Leiden 2333 ZA, The Netherlands; m.nielsen{at}lumc.nl

Abstract

Background Gene-targeting studies in mice have revealed a key role for EVI1 protein in the maintenance of haematopoiesis, and argue in favour of a gene dosage requirement for EVI1 in the regulation of haematopoietic stem cells. Furthermore, a fusion transcript of MDS1 and EVI1 has been shown to play a critical role in maintaining long-term haematopoietic stem cell function. Inappropriate activation of EVI1, usually due to a translocation, is a well known and unfavourable change in several myeloid malignancies. It is not known whether haploinsufficiency of any of these genes leads to disease in humans.

Methods SNP array analysis in a patient with in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia

Results and Conclusions We report for the first time a constitutional deletion encompassing the EVI1 and MDS1 genes in a human, and argue that the deletion causes congenital bone marrow failure in this patient.

  • Haematology (incl Blood transfusion)
  • Cytogenetics

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