TY - JOUR T1 - Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia JF - Journal of Medical Genetics JO - J Med Genet SP - 598 LP - 600 DO - 10.1136/jmedgenet-2012-100990 VL - 49 IS - 9 AU - Maartje Nielsen AU - Clementien L Vermont AU - Emmelien Aten AU - Claudia A L Ruivenkamp AU - Femke van Herrewegen AU - Gijs W E Santen AU - Martijn H Breuning Y1 - 2012/09/01 UR - http://jmg.bmj.com/content/49/9/598.abstract N2 - 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. ER -