RBM10 and RBM12

RBM10 and RBM12 are RNA binding proteins. For several years we have been investigating mutations in RBM10 using both patient blood samples, patient cells, and expression vectors.  Mutations in RBM10 have been known to cause TARP syndrome. RNA-sequencing and protein analysis has allowed us to explore these mutations in depth and describe relationships between mutations and disease phenotype. 

Recently, we also investigated mutations in the RBM12 gene using both RNA-sequencing of patient cells and CRISPR generated cells.