CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q). | Aplastic Anemia & MDS International Foundation Return to top.

CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q).

Journal Title: 
Br J Haematol
Primary Author: 
Bello E
Author(s): 
Bello E, Pellagatti A, Shaw J, Mecucci C, Kušec R, Killick S, Giagounidis A, Raynaud S, Calasanz MJ, Fenaux P, Boultwood J
Original Publication Date: 
Thursday, June 18, 2015

Mutations of CSNK1A1, a gene mapping to the commonly deleted region of the 5q- syndrome, have been recently described in patients with del(5q) myelodysplastic syndromes (MDS). Haploinsufficiency of Csnk1a1 in mice has been shown to result in β-catenin activation and expansion of haematopoietic stem cells (HSC). We have screened a large cohort of 104 del(5q) MDS patients and have identified mutations of CSNK1A1 in five cases (approximately 5%). We have shown up-regulation of β-catenin target genes in the HSC of patients with del(5q) MDS. Our data further support a central role of CSNK1A1 in the pathogenesis of MDS with del(5q).

Bone Marrow Disease(s): 
  • myelodysplastic syndromes (MDS)
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