title: Mutations in the G6PC3 gene cause Dursun syndrome.
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.
authors.affiliation: Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester, UK.
authors.forename: Siddharth
authors.initials: S
authors.lastname: Banka
authors.forename: William G
authors.initials: WG
authors.lastname: Newman
authors.forename: R Koksal
authors.initials: RK
authors.lastname: Ozgül
authors.forename: Ali
authors.initials: A
authors.lastname: Dursun
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002417:Cattle; D002675:Child, Preschool; D005260:Female; D005952:Glucose-6-Phosphatase / Q000737:chemistry / Q000235:genetics*; D006344:Heart Septal Defects, Atrial / Q000150:complications / Q000235:genetics*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications / Q000235:genetics*; D007970:Leukopenia / Q000150:complications / Q000235:genetics*; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D009503:Neutropenia / Q000150:complications / Q000235:genetics; D051381:Rats; D012128:Respiratory Distress Syndrome / Q000401:mortality; D013577:Syndrome
chemical_list: D005952:Glucose-6-Phosphatase; C492193:G6PC3 protein, human