Mutations in the G6PC3 gene cause Dursun syndrome

Published on Oct 1, 2010in American Journal of Medical Genetics Part A
· DOI :10.1002/AJMG.A.33615
Siddharth Banka27
Estimated H-index: 27
(St Mary's Hospital),
William G. Newman63
Estimated H-index: 63
(St Mary's Hospital)
+ 1 AuthorsAli Dursun16
Estimated H-index: 16
(Boston Children's Hospital)
Dursun syndrome is a triad of familial primary pulmonary hypertension, leucopenia, and atrial septal defect. Here we demonstrate that mutations in G6PC3 cause Dursun syndrome. Mutations in G6PC3 are known to also cause severe congenital neutropenia type 4. Identification of the genetic basis of Dursun syndrome expands the pre-existing knowledge about the phenotypic effects of mutations in G6PC3. We propose that Dursun syndrome should now be considered as a subset of severe congenital neutropenia type 4 with pulmonary hypertension as an important clinical feature.
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