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- PMID: 23298686
- UKPMCID: 23298686
- DOI: 10.1016/j.ymgme.2012.12.001
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G6PC3 mutations cause non-syndromic severe congenital neutropenia.
Banka, Siddharth; Wynn, Robert; Byers, Helen; Arkwright, Peter D; Newman, William G
Molecular genetics and metabolism. 2013;108(2):138-41.
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Full-text held externally
- PMID: 23298686
- UKPMCID: 23298686
- DOI: 10.1016/j.ymgme.2012.12.001
Abstract
The deficiency of ubiquitously expressed glucose-6-phosphatase (G6PC3) enzyme is known to result in a syndrome characterized by severe congenital neutropenia, prominent superficial venous pattern, congenital heart defects and genito-urinary malformations. Here, we describe four patients from three families with non-syndromic severe congenital neutropenia and identify four G6PC3 mutations as causative in these cases. Thus we demonstrate that G6PC3 mutations also result in a non-syndromic form of severe congenital neutropenia. We propose that G6PC3 deficiency should be considered as part of the differential diagnoses in any patient with unexplained congenital neutropenia. Additionally, we show a relationship between the genotype and non-hematological phenotype of G6PC3 deficiency. These findings may provide an insight into the role of the G6PC3 enzyme and glucose metabolism in developmental pathways.