This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.
To date less than 10 cases are reported.
Autosomal dominant macrothrombocytopenia is caused by mutations in the integrin, beta 3 ITGB3, tubulin, beta-1TUBB1 and actinin, alpha1 ACTN1 genes. These mutations lead to abnormal proplatelets and thrombocytopenia.
Transmission is autosomal dominant.
Last update: May 2013