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. 2016 Jun;101(6):e228-31.
doi: 10.3324/haematol.2015.139790. Epub 2016 Mar 4.

Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia

Ruijuan Li  1 , Nara Sobreira  2 , P Dane Witmer  3 , Keith W Pratz  4 , Evan M Braunstein  5
Affiliations

Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia

Ruijuan Li et al. Haematologica. 2016 Jun.
No abstract available

Keywords: AML; DDX41; MDS; inherited; novel mutation.

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Figures

Figure 1.
Figure 1.
Genetic analysis of family with inherited myelodysplastic syndrome/acute myeloid leukemia. (A) Family pedigree is consistent with an autosomal dominant mode of inheritance. Filled circles/boxes denote affected family members, while slashes denote deceased individuals. A black arrow denotes the proband. (B) Representative chromatograms from Sanger sequencing of family members. The affected nucleotides are indicated with black arrows. (C) Analysis of the tumor sample of subject II-1 shows evidence of a p.R525H mutation both by Sanger (right panel) and pyrosequencing (center panel). Pyrosequencing of genomic DNA shows only the reference allele (left panel). Note that the sequencing primer for pyrosequencing aligns to the reverse complement sequence.
Figure 2.
Figure 2.
Structure and alignment of the DDX41 protein. (A) Schematic diagram of the DDX41 protein indicating sites of known germline mutations. The variants described in this report are shown in red. Known functional domains are indicated. (B and C) Protein sequence of DDX41 flanking the Leu237Phe and Pro238Thr variants (red) and alignment to the corresponding regions of various species and the DEAD-box family members. The ATP-binding site (blue) is located close to the variants (red) among the eight homologs shown.
See this image and copyright information in PMC

References

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