A Rare Congenital Syndrome And The Genetic Cause Behind It Has Been Brought To Light

An international 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.

The team-consisting 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-have also identified the genetic cause of the syndrome: mutations in the gene Glucose-6-phosphatase, catalytic subunit 3 (G6PC3).

"Our discovery will help facilitate genetic diagnosis in this newly defined group of severe congenital neutropenia patients," The New England Journal of Medicine quoted Dr. Christoph Klein, Hannover Medical School, the principal investigator of the study, as saying.

"Knowledge about the underlying genetic defect is an important first step in developing a targeted therapy," he added.

The researchers also claim that they have identified a new 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 Dr. Kaan Boztug, Hannover Medical School, lead author of the study.

For their study, the researchers focused on five children of Turkish descent, four of whom were known to be related. The children did not have identified mutations but had recessive SCN, which means they had inherited mutations from both of their parents. The children were identified for the study using the SCN International Registry.