FIGURE 1.

Molecular alteration and clinical and laboratory parameters of a family with tropomyosin‐4 related macrothrombocytopenia (TPM4‐RT). (A) Pedigree of a family with lifelong dominant inherited macrothrombocytopenia and bleeding tendency. The index case is indicated with a black arrow. Partially filled black symbols indicate heterozygosis for the indicated TPM4 variant. (B) Representative peripheral blood film from II.2 patient (propositus) after May‐Grunwald Giemsa staining (×100). Variable platelet size was observed with large (black arrows) and giant (red asterisk) platelets. Bar: 20 µm (C) Schematic representation of the TPM4 protein, which contains 248 amino acids and a unique coiled‐coil domain. Figure shows the previously reported variants (in black), p.Arg69*, ¹³ p.Arg146Cys and p.Ala147Val, ¹⁴ and the novel genetic change p.Gln108* (in red) found in the pedigree reported here. All genetic alterations are numbered according to positions in the NM_003290.3 transcript for TPM4. Variants p.Arg146Cys and p.Ala147Val correspond to described p.Arg182Cys and p.Ala183Val (NM_001145160.2) ¹⁴