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. 2022 Nov 4;141(5):534–549. doi: 10.1182/blood.2022018221

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Figure 1. — P/LP germ line variants and somatic mutations in DDX41 found in 346 cases with MNs. (A) Frequency of truncating and nontruncating variants within P/LP germ line variants and somatic mutations (left), cases with P/LP germ line and/or somatic variants of DDX41 (middle left), nontruncating variants involving known functional domains (middle right), and cases with somatic DDX41 mutations alone with mono and biallelic involvement (right). (B) Distribution of 325 germ line variants (top) and 229 somatic mutations (bottom). Truncating (red) and nontruncating (blue) P/LP germ line variants were defined based on the American College of Medical Genetics and Genomics criteria. Gray color indicates those classified as germ line variants with undetermined significance. Amino acid locations of relevant functional domains are indicated at the bottom. (C) Germ line variants with deletions including multiple exons identified in 3 cases. Genomic positions of DDX41 (NM_016222) and affected regions were shown according to the GRCh37/hg19 reference. (D) Distributions of age at disease onset in 1039 patients with MN in whom germ line samples were examined. (E) The number of cases with P/LP alleles of DDX41 and other 22 known leukemia predisposing genes in 1039 Japanese cases with MN. The germ line origin of each variant was confirmed in buccal smear samples. (F) Distributions of age at disease onset in those with P/LP germ line variants in DDX41 and the other genes. Statistical significance was tested by 2-sided Wilcoxon test.

Figure 1. — P/LP germ line variants and somatic mutations in DDX41 found in 346 cases with MNs. (A) Frequency of truncating and nontruncating variants within P/LP germ line variants and somatic mutations (left), cases with P/LP germ line and/or somatic variants of DDX41 (middle left), nontruncating variants involving known functional domains (middle right), and cases with somatic DDX41 mutations alone with mono and biallelic involvement (right). (B) Distribution of 325 germ line variants (top) and 229 somatic mutations (bottom). Truncating (red) and nontruncating (blue) P/LP germ line variants were defined based on the American College of Medical Genetics and Genomics criteria. Gray color indicates those classified as germ line variants with undetermined significance. Amino acid locations of relevant functional domains are indicated at the bottom. (C) Germ line variants with deletions including multiple exons identified in 3 cases. Genomic positions of DDX41 (NM_016222) and affected regions were shown according to the GRCh37/hg19 reference. (D) Distributions of age at disease onset in 1039 patients with MN in whom germ line samples were examined. (E) The number of cases with P/LP alleles of DDX41 and other 22 known leukemia predisposing genes in 1039 Japanese cases with MN. The germ line origin of each variant was confirmed in buccal smear samples. (F) Distributions of age at disease onset in those with P/LP germ line variants in DDX41 and the other genes. Statistical significance was tested by 2-sided Wilcoxon test.