Journal article

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I

Christian Babbs, Nigel A Roberts, Luis Sanchez-Pulido, Simon J McGowan, Momin R Ahmed, Jill M Brown, Mohamed A Sabry, David R Bentley, Gil A McVean, Peter Donnelly, Opher Gileadi, Chris P Ponting, Douglas R Higgs, Veronica J Buckle

Haematologica | FERRATA STORTI FOUNDATION | Published : 2013


The congenital dyserythropoietic anemias are a heterogeneous group of rare disorders primarily affecting erythropoiesis with characteristic morphological abnormalities and a block in erythroid maturation. Mutations in the CDAN1 gene, which encodes Codanin-1, underlie the majority of congenital dyserythropoietic anemia type I cases. However, no likely pathogenic CDAN1 mutation has been detected in approximately 20% of cases, suggesting the presence of at least one other locus. We used whole genome sequencing and segregation analysis to identify a homozygous T to A transversion (c.533T>A), predicted to lead to a p.L178Q missense substitution in C15ORF41, a gene of unknown function, in a consan..

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University of Melbourne Researchers



Awarded by Medical Research Council

Funding Acknowledgements

This work was supported by the Medical Research Council in CPP and VJB laboratories. The WGS500 project is funded by Wellcome Trust, Oxford NIHR Biomedical Research Centre and Illumina.