Fig. 1.

Familiar inheritance of variants in telomere-related genes in patients with aplastic anemia and pulmonary fibrosis. The family of four affected patients is represented in panels (a-d). The probands (indicated by arrows) of families (a-c) are affected of aplastic anemia and that of family (d) of pulmonary fibrosis. The number of the family and the variants analyzed are shown in the upper part of each diagram. In the cases where several variants were studied, they are shown in the heading in the same relative order and colour as in the diagrams. The presence of the variants is represented as colour-filled squares or circles and that of the presence of the reference allele as empty figures. The number assigned to each patient or relative is indicated in the upper, right part of each symbol. The age of each individual, the determined telomere size, in kb, and the corresponding percentage of the age-matched population are shown under each symbol. Relatives affected by pulmonary fibrosis are indicated in the upper left part of their symbol (PF). Patient F001 in panel (d) had a deceased identical twin brother as indicated by joining them with a broken line