A new mutation in TUBB1 associated with thrombocytopenia confirms that C-terminal part of β1-tubulin plays a role in microtubule assembly.

The article presents a case study of 31-year-old pregnant woman with thrombocytopenia. Examinations revealed macrothrombocytopenia in siblings and T nonsense mutation was identified in TUBB1 gene falls within amino acids part of the protein. Anti-β1-tubulin antibody was used which effects effect microtubule assembly.