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Mutations in the G6PC3 gene cause Dursun syndrome

✍ Scribed by Siddharth Banka; William G. Newman; R. Koksal Özgül; Ali Dursun

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
129 KB
Volume
152A
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

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. © 2010 Wiley‐Liss, Inc.

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