Mutations in the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia.

摘要: Previously, nonsense mutations in the gene encoding granulocyte colony-stimulating factor receptor (G-CSF-R) have been described three patients with severe congenital neutropenia (SCN) (Proc Natl Acad Sci USA 1994; 91: 4480; New Engl J Med 1995; 333: 487). The resulted truncation of carboxy-terminal region G-CSF-R essential for transduction maturation signals. Two these developed acute myeloblastic leukemia (AML). We present results a search among 20 additional cases (CN) and SCN presence cytoplasmic domain G-CSF-R. This series includes familial nonfamilial forms CN SCN. Mutations were found two new cases. These mutations, located same as those earlier, resulting C-terminus. Both AML. None other showed clinical symptoms or cytogenetic features indicative AML progression to leukemia. analysis this extended thus has revealed five four whom add support notion that gene, affecting signaling function receptor, define distinct subgroup increased susceptibilty