Scientists identify new congenital neutropenia syndrome and causative gene mutation

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 and 12 from other research institutions, including the National Center for Biotechnology Information at the National Library of Medicine, National Institutes of Health.

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