Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia. Issue 9 (11th September 2012)

• Record Type: Journal Article
• Authors: Nielsen, Maartje; Vermont, Clementien L; Aten, Emmelien; Ruivenkamp, Claudia A L; van Herrewegen, Femke; Santen, Gijs W E; Breuning, Martijn H
• Is Part Of: Journal of medical genetics. Volume 49:Issue 9(2012)
• Page Start: 598
• Page End: 600
• Publication Date: 2012-09-11
• Subjects: Haematology (incl Blood transfusion) -- Cytogenetics; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmedgenet-2012-100990
• Languages: English
• ISSNs: 1468-6244

Abstract

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.