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

A team of scientists has discovered a new syndrome associated with severe congenital neutropenia (SCN), a rare disorder in which children lack sufficient infection-fighting white cells, and identified the genetic cause of the syndrome: mutations in the gene Glucose-6-phosphatase, catalytic subunit 3 (G6PC3). The findings, which are published in the Jan. 1, 2009 issue of The New England Journal of Medicine, were made by an international team of scientists, composed of 14 researchers from the Medical School of Hannover in Germany and12 from other research institutions, including the National Center for Biotechnology Information at the National Library of Medicine, National Institutes of Health.

"Our discovery will help facilitate genetic diagnosis in this newly defined group of severe congenital neutropenia patients," said Christoph Klein, M.D., Ph.D., Hannover Medical School, the principal investigator of the study. "Knowledge about the underlying genetic defect is an important first step in developing a targeted therapy."

The research also identified a novel pathway that is critical in controlling the life and death of immune cells. "This may eventually open new horizons for the development of drugs interfering with that pathway, which is important not only for patients with SCN, but potentially also for patients with other blood disorders," said Kaan Boztug, M.D., Hannover Medical School, lead author of the study.

Severe congenital neutropenia (SCN) is a rare disorder, with an incidence of less than one in 200,000 births. The disorder is characterized by insufficient quantity of neutrophils, a type of white blood cell important in fighting infection. Children born with SCN suffer from frequent bacterial infections, and until the introduction of treatment with recombinant human granulocyte colony-stimulating factor (GCSF) in the 1990s, about three-fourths of affected children would die before 3 years of age. Treatment with GC
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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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