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Scientists identify new congenital neutropenia syndrome and causative gene mutation
Date:1/2/2009

l patients from the SCN International Registry with unknown mutations and found G6PC3 mutations in seven. These seven children had different types of G6PC3 mutations than the original five study subjects, but they shared a constellation of clinical symptoms. Eleven of the 12 patients had heart defects or urogenital malformations, and 10 had unusually prominent subcutaneous veins. This grouping of clinical characteristics has not previously been described with SCN and defines a new syndrome associated with G6PC3 mutation.

The study also clarifies the importance of maintaining adequate glucose levels in keeping neutrophils alive and ensuring an adequate immune response to infections. The researchers found that insufficient supply of glucose causes neutrophils to undergo stress, and if the body's stress response is not adequate, the neutrophils will die. This connection between insufficient glucose and cellular stress response may be relevant to other more common diseases, especially those related to glucose disorders and glycogen-storage disorders.

"The study's findings are important for the care of patients with SCN, and for building an understanding of the diverse genetic causes of this disease," said David Dale, M.D., University of Washington, who wrote an accompanying editorial on the study in The New England Journal of Medicine. "We do not know yet if patients with mutations in the G6PC pathway are at risk of developing leukemia and if they will need as frequent blood tests as other SCN patients. Knowledge of G6PC3 mutations will also alert physicians to look for cardiac defects in children with severe neutropenia as a clue to making this specific diagnosis."


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Contact: Kathy Cravedi
kcravedi@nlm.nih.gov
301-496-6308
NIH/National Library of Medicine
Source:Eurekalert

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