PT  - JOURNAL ARTICLE
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
TI  - Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia
AID  - 10.1136/jmedgenet-2012-100990
DP  - 2012 Sep 01
TA  - Journal of Medical Genetics
PG  - 598--600
VI  - 49
IP  - 9
4099  - http://jmg.bmj.com/content/49/9/598.short
4100  - http://jmg.bmj.com/content/49/9/598.full
SO  - J Med Genet2012 Sep 01; 49
AB  - 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.