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

SF usually reduces the duration and severity of neutropenia and results in improved clinical outcome and survival. However, SCN patients eventually may develop myelodysplasia or acute myelogenous leukemia.

In recent years, significant progress has been made in identifying the genetic defects that cause SCN, but in many patients, the underlying genetic cause remains unknown. The most common cause of inherited SCN is a heterozygous mutation (where one copy of the gene is mutated and the other is not) in the neutrophil elastase (ELA2) gene. In 2007, Klein's lab identified another causative mutation in a subgroup of SCN patients: homozygous mutations (where the defect is present in both copies of the gene) in the HAX1 gene.

To conduct the current 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 (i.e., the children inherited mutations from both of their parents, who each carried one mutated gene but were themselves unaffected). The children were identified for the study using the SCN International Registry.

A researcher from NCBI analyzed data on the children to look for suspect genes, and determined that the gene of interest was among 258 on chromosome 17. Further positional analysis at NCBI reduced the number of suspect genes to 36. A big break in the research came in early 2007 when a team headed by Janice Chou, Ph.D., at NIH's National Institute of Child Health and Human Development, published research showing impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking the protein glucose-6-phosphatase, catalytic subunit 3 (also known as G6PC3). The G6PC3 gene happened to be among the 36 genes Klein's team was examining, and DNA analysis indeed showed that all five study patients had the same mutations in this gene.

The researchers then sequenced the DNA of 104 additiona
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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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