Fig. 2

Family Pedigree, sanger sequencing, platelet aggregation curves, thrombelastogram and expression of αIIb and β3. (A) Pedigree of the GT family and sanger sequencing validation. NM_000212.3 is the reference transcript. III3 (proband) had a homozygous frameshift mutation c.2143_2158delinsCT (16 nucleotides were deleted, and CT were inserted in their place) in exon 14 of ITGB3 gene. I4 (grandmother), II2 (father), II3 (mother), abd III2 (the second older sister) were found to be heterozygous carriers. II4 and II5 passed away at the ages of 7 years and 20 days, respectively. (B) Platelet aggregation in the proband. Platelet aggregation by ADP, Col, EPI, and AA was absent in the proband. (C) TEG analysis. TEG results indicated hypocoagulability, as well as reduced platelet function and fibrinogen activity. (D) Expression of CD41 and CD61 on platelet surface. The expression of CD41 and CD61 on the platelet surface in the proband was significantly reduced (< 5%). In contrast, the expression levels were normal in the heterozygous carriers (for simplcity, only the parents of the proband are presented in the figure). (E) Expressions of total αIIb and β3 in platelets. The expressions of total αIIb and β3 in platelets of the proband were significantly reduced (< 5%) but were normal in the heterozygous carriers. 1: normal control, 2: proband, 3–6: the parents, second older sister, and grandmother of proband, respectively