Ann Lab Med.  2024 May;44(3):299-302. 10.3343/alm.2023.0375.

Twins With an Identical Novel Mutation in ITGB3: A Case Report of Glanzmann Thrombasthenia–like Syndrome

• Lee J
• Lee JM
• Kim HS
• Jung J
• Kim Y
• Park SY
• Kim M
• Han E

• KMID: 2555709
• DOI: http://doi.org/10.3343/alm.2023.0375

Figure

• 

  Fig. 1 Test results of this case, pedigree, and the locations of mutations in the integrin molecule. (A) Macrothrombocytopenia with normal leukocyte morphology (May–Grunwald–Giemsa staining, 1,000× magnification). (B) Pedigree and the patients’ platelet indices. (C) Sanger sequencing results (NM_000212.3: c.2192T>G, [NP_000203.2:p.Leu731Arg]). (D) Structure of the integrin αIIbβ3 transmembrane complex. Leu731Arg and previously reported mutations are indicated using colored balls. (E) Defective platelet aggregation was observed for all agonists, except ristocetin. (F) Reserved expression of CD41a (αIIb) on the platelet surface of the patient (red) compared with that in the normal control (blue). Abbreviations: PLT, platelet; MPV, mean platelet volume.

Reference

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