DGKE and atypical HUS.

Abstract

A new study reports that recessive loss-of-function mutations in the gene encoding diacylglycerol kinase ε result in atypical hemolytic-uremic syndrome. Notably, mutations in DGKE are not associated with activation of the complement pathway, the only other identified cause of this disorder so far, and have important implications for patient management.

• Authors: Susan E Quaggin
• Journal: Nature genetics (Nat Genet) Vol. 45 Issue 5 Pg. 475-6 (May 2013) ISSN: 1546-1718 [Electronic] United States
• PMID: 23619787 (Publication Type: Journal Article, Comment)

Chemical References

• DGKE protein, human
• Diacylglycerol Kinase

Topics

• Atypical Hemolytic Uremic Syndrome
• Diacylglycerol Kinase (genetics)
• Female
• Genes, Recessive (genetics)
• Hemolytic-Uremic Syndrome (etiology)
• Humans
• Male
• Mutation (genetics)