Patient-derived neomorphic SEPTIN6 mutations induce hematopoietic stem cell senescence underlying congenital neutropenia and myelodysplasia.
Septins are RAS-like GTP-binding proteins involved in cytoskeletal organization and cellular division. We previously described 2 pediatric patients harboring SEPT6 germline mutations (GM1: SEPT6 c.1282T>C and GM2: SEPT6 c.1282T>A) presenting with congenital neutropenia associated with the development of myelodysplastic...