Mutations in the G6PC3 gene cause Dursun syndrome

Siddharth Banka, William G. Newman, R. Koksal Özgül, Ali Dursun

    Research output: Contribution to journalArticlepeer-review


    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.
    Original languageEnglish
    Pages (from-to)2609-2611
    Number of pages2
    JournalAmerican Journal of Medical Genetics, Part A
    Issue number10
    Publication statusPublished - Oct 2010


    • Dursun syndrome
    • G6PC3
    • Glucose-6-phosphatase
    • Primary pulmonary hypertension
    • Severe congenital neutropenia


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