NovelACTN1variants in cases of thrombocytopenia

Abstract excerpt

The ACTN1 gene has been implicated in inherited macrothrombocytopenia. To decipher the spectrum of variants and phenotype of ACTN1-related thrombocytopenia, we sequenced the ACTN1 gene in 272 cases of unexplained chronic or familial thrombocytopenia. We identified 15 rare, monoallelic, nonsynonymous and likely pathogenic ACTN1 variants in 20 index cases from 20 unrelated families. Thirty-one family members...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Blood properties and coagulation
• Share to Myeloproliferative Neoplasms: Diagnosis and Treatment
• Share to Platelet Disorders and Treatments