Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia

doi:10.1038/leu.2016.124

. 2016 Oct;30(10):2083-2086.

doi: 10.1038/leu.2016.124. Epub 2016 Jun 2.

Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia

S R Cardoso¹, G Ryan², A J Walne¹, A Ellison¹, R Lowe¹, H Tummala¹, A Rio-Machin^{1

3}, L Collopy¹, A Al Seraihi³, Y Wallis², P Page², S Akiki², J Fitzgibbon³, T Vulliamy¹, I Dokal¹

Affiliations

¹ Centre for Genomics and Child Health, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts NHS Trust, London, UK.
² Birmingham Women's NHS Foundation Trust, Birmingham, UK.
³ Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.

PMID: 27133828
PMCID: PMC5008455
DOI: 10.1038/leu.2016.124

Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia

S R Cardoso et al. Leukemia. 2016 Oct.

. 2016 Oct;30(10):2083-2086.

doi: 10.1038/leu.2016.124. Epub 2016 Jun 2.

Authors

S R Cardoso¹, G Ryan², A J Walne¹, A Ellison¹, R Lowe¹, H Tummala¹, A Rio-Machin^{1

3}, L Collopy¹, A Al Seraihi³, Y Wallis², P Page², S Akiki², J Fitzgibbon³, T Vulliamy¹, I Dokal¹

Affiliations

¹ Centre for Genomics and Child Health, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts NHS Trust, London, UK.
² Birmingham Women's NHS Foundation Trust, Birmingham, UK.
³ Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.

PMID: 27133828
PMCID: PMC5008455
DOI: 10.1038/leu.2016.124

No abstract available

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

**Figure 1**
(a–d) Families with MDS–AML with variants in *DDX41*, their age at diagnosis and their respective Sanger sequencing traces. Affected individuals are colored as follows: red, MDS; yellow, CML; black, AML; and green, other non-hematological cancer. (e) Schematic of DDX41 protein showing the heterozygous variants identified in this study. CML, chronic myeloid leukemia.

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References

1. Song W-J, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999; 23: 166–175. - PubMed
1. Smith ML, Cavenagh JD, Lister TA, Fitzgibbon J. Mutation of CEBPA in familial acute myeloid leukaemia. N Engl J Med 2004; 351: 2403–2407. - PubMed
1. Kirwan M, Vulliamy T, Marrone A, Walne AJ, Beswick R, Hillmen P et al. Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukaemia. Hum Mutat 2009; 30: 1567–1573. - PubMed
1. Hahn C N, Chong C-E, Carmichael CL, Wilkins EJ, Brautigan PJ, Li X-C et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukaemia. Nat Genet 2011; 43: 1012–1019. - PMC - PubMed
1. Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ et al. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukaemia (Emberger syndrome). Nat Genet 2011; 43: 929–931. - PubMed

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[1] Song W-J, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999; 23: 166–175. - PubMed

[2] Song W-J, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999; 23: 166–175. - PubMed

[3] Smith ML, Cavenagh JD, Lister TA, Fitzgibbon J. Mutation of CEBPA in familial acute myeloid leukaemia. N Engl J Med 2004; 351: 2403–2407. - PubMed

[4] Smith ML, Cavenagh JD, Lister TA, Fitzgibbon J. Mutation of CEBPA in familial acute myeloid leukaemia. N Engl J Med 2004; 351: 2403–2407. - PubMed

[5] Kirwan M, Vulliamy T, Marrone A, Walne AJ, Beswick R, Hillmen P et al. Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukaemia. Hum Mutat 2009; 30: 1567–1573. - PubMed

[6] Kirwan M, Vulliamy T, Marrone A, Walne AJ, Beswick R, Hillmen P et al. Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukaemia. Hum Mutat 2009; 30: 1567–1573. - PubMed

[7] Hahn C N, Chong C-E, Carmichael CL, Wilkins EJ, Brautigan PJ, Li X-C et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukaemia. Nat Genet 2011; 43: 1012–1019. - PMC - PubMed

[8] Hahn C N, Chong C-E, Carmichael CL, Wilkins EJ, Brautigan PJ, Li X-C et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukaemia. Nat Genet 2011; 43: 1012–1019. - PMC - PubMed

[9] Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ et al. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukaemia (Emberger syndrome). Nat Genet 2011; 43: 929–931. - PubMed

[10] Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ et al. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukaemia (Emberger syndrome). Nat Genet 2011; 43: 929–931. - PubMed

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Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia

Affiliations

Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia

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Conflict of interest statement

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