NCBI Researchers Help Identify New Syndrome and Gene Mutation

An international team of scientists including researchers from the National Center for Biotechnology Information (NCBI), a part of the National Library of Medicine, have discovered a new syndrome associated with severe congenital neutropenia (SCN), a rare disorder in which children lack sufficient infection-fighting white cells. The scientists also identified the genetic cause of the syndrome: mutations in the gene Glucose-6-phosphatase, catalytic subunit 3 (G6PC3).

The findings, to appear in the January 1, 2009 issue of The New England Journal of Medicine, will facilitate genetic diagnosis in this newly defined group of severe congenital neutropenia patients, and help to identify a critical pathway controlling the life cycle of immune cells.

The study authors believe their research may lead to new drugs to help combat SCN and, potentially, other blood disorders.