title: Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia.
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
  
  
  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.
authors.affiliation: Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. m.nielsen@lumc.nl
authors.forename: Maartje
authors.initials: M
authors.lastname: Nielsen
authors.forename: Clementien L
authors.initials: CL
authors.lastname: Vermont
authors.forename: Emmelien
authors.initials: E
authors.lastname: Aten
authors.forename: Claudia A L
authors.initials: CA
authors.lastname: Ruivenkamp
authors.forename: Femke
authors.initials: F
authors.lastname: van Herrewegen
authors.forename: Gijs W E
authors.initials: GW
authors.lastname: Santen
authors.forename: Martijn H
authors.initials: MH
authors.lastname: Breuning
mesh_terms: D000328:Adult; D000741:Anemia, Aplastic / Q000150:complications / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D000074008:MDS1 and EVI1 Complex Locus Protein; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D011519:Proto-Oncogenes / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D013921:Thrombocytopenia / Q000151:congenital* / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D000074008:MDS1 and EVI1 Complex Locus Protein; C063575:MECOM protein, human; D014157:Transcription Factors