doi: 10.1002/ajmg.a.33615.
Mutations in the G6PC3 gene cause Dursun syndrome
Affiliations
- PMID: 20799326
- DOI: 10.1002/ajmg.a.33615
Item in Clipboard
Mutations in the G6PC3 gene cause Dursun syndrome
Am J Med Genet A.
2010 Oct.
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.
Copyright © 2010 Wiley-Liss, Inc.
Similar articles
-
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.Orphanet J Rare Dis. 2013 Jun 13;8:84. doi: 10.1186/1750-1172-8-84. Orphanet J Rare Dis. 2013. PMID: 23758768 Free PMC article. Review.
-
Three patients with glucose-6 phosphatase catalytic subunit 3 deficiency.J Pediatr Endocrinol Metab. 2020 Jul 28;33(7):957-961. doi: 10.1515/jpem-2019-0541. J Pediatr Endocrinol Metab. 2020. PMID: 32623377
-
G6PC3 mutations cause non-syndromic severe congenital neutropenia.Mol Genet Metab. 2013 Feb;108(2):138-41. doi: 10.1016/j.ymgme.2012.12.001. Epub 2012 Dec 21. Mol Genet Metab. 2013. PMID: 23298686
-
A case of syndromic neutropenia and mutation in G6PC3.J Pediatr Hematol Oncol. 2011 Mar;33(2):138-40. doi: 10.1097/MPH.0b013e3181f46bf4. J Pediatr Hematol Oncol. 2011. PMID: 21285905
-
Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature.Endocr Metab Immune Disord Drug Targets. 2021;21(9):1660-1668. doi: 10.2174/1871530321666210616110631. Endocr Metab Immune Disord Drug Targets. 2021. PMID: 34137364 Review.
Cited by
-
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.Orphanet J Rare Dis. 2014 Dec 10;9:183. doi: 10.1186/s13023-014-0183-8. Orphanet J Rare Dis. 2014. PMID: 25491320 Free PMC article.
-
Assessment of Congenital Neutropenia in Children: Common Clinical Sceneries and Clues for Management.Mediterr J Hematol Infect Dis. 2022 Jan 1;14(1):e2022008. doi: 10.4084/MJHID.2022.008. eCollection 2022. Mediterr J Hematol Infect Dis. 2022. PMID: 35070215 Free PMC article. Review.
-
A consensus approach to the classification of pediatric pulmonary hypertensive vascular disease: Report from the PVRI Pediatric Taskforce, Panama 2011.Pulm Circ. 2011;1(2):286-298. doi: 10.4103/2045-8932.83456. Pulm Circ. 2011. PMID: 21874158 Free PMC article.
-
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient.Allergy Asthma Clin Immunol. 2023 Jun 9;19(1):51. doi: 10.1186/s13223-023-00804-4. Allergy Asthma Clin Immunol. 2023. PMID: 37296469 Free PMC article.
-
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.Ital J Pediatr. 2014 Nov 14;40:80. doi: 10.1186/s13052-014-0080-8. Ital J Pediatr. 2014. PMID: 25391451 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Molecular Biology Databases
