PMC8253534_01
The clinical data and genetic analysis of the family with IMTP and mild bleeding. (A) Pedigree of the family. Black circles/squares are affected; white circles/squares are unaffected; slashed symbol is deceased family member. Arrow indicates the proband. (B) Blood smears (May-Grunwald Giemsa staining) revealed macrothrombocytopenia in the proband and his mother. (C) Sanger DNA sequencing chromatogram demonstrates the heterozygosity for an ACTN1 frameshift mutation (NM_001130004: c.398_399insTGCG, p.F134AfsX60) in affected members. (D) Western blot analysis of the expression of ACTN1 in the proband's platelets.
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F1
A family from central south region of China (Hunan province) including seven persons was investigated in this study (Figure 1A). Peripheral blood smears May-Grunwald Giemsa staining revealed macrothrombocytopenia in the proband and his mother (Figure 1B). Via the aforementioned filtering method and Sanger sequencing validation, a novel frameshift mutation (NM_001130004: c.398_399insTGCG, p.F134AfsX60) of ACTN1 was identified in the proband and his mother but absent in unaffected individuals (Figure 1C). Western Blot indicated that, compared with the healthy controls, the expression of ACTN1 was decreased by ~49% in the heterozygous carrier (Figure 1D).