Exome sequencing identifies a novel frameshift mutation of a-actin in a Chinese family with macrothrombocytopenia and mild bleeding

By employing whole exome sequencing, we identified a novel frameshift mutation (NM_001130004: c.398_399insTGCG, p.F134AfsX60) of ACTN1 in a Chinese family with IMTP and mild epistaxis and/or gingival bleeding. Hence, our study not only expanded the variants spectrum of ACTN1 gene and contributed to the genetic counseling and prenatal genetic diagnosis of the family, but also confirmed the diagnosis of IMTP, which may help the management and prognosis for the family members.