Mutations in the G6PC3 Gene Cause Dursun Syndrome

Banka S., Newman W. G., ÖZGÜL R. K., DURSUN A.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.10, pp.2609-2611, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: Issue: 10
  • Publication Date: 2010
  • Doi Number: 10.1002/ajmg.a.33615
  • Journal Name: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.2609-2611
  • Keywords: Dursun syndrome, severe congenital neutropenia, G6PC3, glucose-6-phosphatase, primary pulmonary hypertension, SEVERE CONGENITAL NEUTROPENIA, ARTERIAL-HYPERTENSION, PULMONARY
  • Hacettepe University Affiliated: Yes

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. (C) 2010 Wiley-Liss, Inc.