A syndrome with congenital neutropenia and mutations in G6PC3.

ABSTRACT:

Background

The main features of severe congenital neutropenia are the onset of severe bacterial infections early in life, a paucity of mature neutrophils, and an increased risk of leukemia. In many patients, the genetic causes of severe congenital neutropenia are unknown.

Methods

We performed genomewide genotyping and linkage analysis on two consanguineous pedigrees with a total of five children affected with severe congenital neutropenia. Candidate genes from the linkage interval were sequenced. Functional assays and reconstitution experiments were carried out.

Results

All index patients were susceptible to bacterial infections and had very few mature neutrophils in the bone marrow; structural heart defects, urogenital abnormalities, and venous angiectasia on the tru

SUBMITTER: Boztug K 

PROVIDER: S-EPMC2778311 | biostudies-literature | 2009 Jan

REPOSITORIES: biostudies-literature