4.6 Article

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

Journal

BRITISH JOURNAL OF HAEMATOLOGY
Volume 171, Issue 2, Pages 210-214

Publisher

WILEY
DOI: 10.1111/bjh.13563

Keywords

CSNK1A1; mutation; haploinsufficiency; 5q-syndrome; del(5q)

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Funding

  1. Leukaemia & Lymphoma Research (UK)

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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 beta-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 beta-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).

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