Germ line mutation landscape, prevalence of somatic lesions, and myeloid malignancy diseases in the cohort included in the study. (A) Frequency of patients without germ line mutations in any of the 60 genes screened (green), patients harboring P/LP mutations identified as causative for a congenital syndrome or disorder (S/D) (red), patients carrying a unique heterozygous mutation in genes associated with autosomal recessive disorders (blue), or patients harboring VUS (purple). (B) Distribution of patients with S/D sustained by the heterozygous mutation in genes associated with dominant inheritance and of patients with S/D associated with homozygous/compound heterozygous mutations in genes associated with recessive inheritance (red bars) as well as of carriers of a unique heterozygous mutation in genes associated with autosomal recessive disorders (blue bars). (C) Pie charts depicting the prevalence of somatic lesions (mutations and/or cytogenetic abnormalities) (green, presence of somatic lesion[s]; orange, absence of somatic lesion[s]) (top), and the prevalence of myeloid neoplasm (MN) (lavender) or nonmalignant conditions (ICUS, CCUS, or AA) (light blue) (bottom), in patients with no germ line mutations (wild-type; WT), patients with S/D, and carriers of a unique heterozygous mutation in genes associated with autosomal recessive disorders. All patients without P/LP variants were included in the germ line WT group. (D) Distribution of the standard hematologic diagnosis (MN [lavender], and nonmalignant conditions [light blue]), in the 27 patients with S/D, based on the underlying syndromes/disorders. DBA, Diamond-Blackfan anemia; FA, Fanconi anemia; SCN, severe congenital neutropenia; SDS, Shwachman-Diamond syndrome.