Mutations in the G6PC3 gene cause Dursun syndrome

Am J Med Genet A. 2010 Oct;152A(10):2609-11. doi: 10.1002/ajmg.a.33615.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Cattle
  • Child, Preschool
  • Female
  • Glucose-6-Phosphatase / chemistry
  • Glucose-6-Phosphatase / genetics*
  • Heart Septal Defects, Atrial / complications
  • Heart Septal Defects, Atrial / genetics*
  • Humans
  • Hypertension, Pulmonary / complications
  • Hypertension, Pulmonary / genetics*
  • Leukopenia / complications
  • Leukopenia / genetics*
  • Male
  • Mice
  • Molecular Sequence Data
  • Mutation
  • Neutropenia / complications
  • Neutropenia / genetics
  • Rats
  • Respiratory Distress Syndrome / mortality
  • Syndrome

Substances

  • Glucose-6-Phosphatase
  • G6PC3 protein, human