Congenital Disorders of Glycosylation
Gene: G6PC3
Multiple unrelated families with G6PC3-deficiency.
Dursun syndrome (MIM#612541); Neutropenia, severe congenital 4, autosomal recessive (MIM#)612541
Deficiencies in G6PC3 impair the hydrolysis of glucose-6-phosphate to glucose. Patients’ neutrophils have both truncated and galactose-defective N- and O-glycans. 86 G6PC3 mutations cause severe congenital neutropenia (SCN) 4 (MIM: 612541) and Dursun syndrome (MIM: 612541). 83 The 119 G6PC3-CDG patients identified present with a wide range of immunological clinical manifestations and cellular/biochemical alterations. CDG and immune response: From bedside to bench and back
doi: 10.1002/jimd.12126
4 unrelated families (PMID:21385794). In summary, our findings provide a novel mechanism for the neutrophil dysfunction seen in both G6PC3 mutation and GSD-1b in that both exhibit profound hypo-galactosylation of N- and O-glycans. The observed defects in glycosylation merit the designation of congenital disorders of glycosylation (CDGs) to both syndromes.
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3mutations
https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-84
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry
https://ojrd.biomedcentral.com/articles/10.1186/s13023-014-0183-8Created: 22 Jul 2020, 5:39 a.m. | Last Modified: 22 Jul 2020, 5:39 a.m.
Panel Version: 0.96
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541
Publications
Gene: g6pc3 has been classified as Green List (High Evidence).
Phenotypes for gene: G6PC3 were changed from to Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541
Publications for gene: G6PC3 were set to
Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: G6PC3 was added gene: G6PC3 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: G6PC3 was set to Unknown