title: A novel G6PC3 gene mutation in a patient with severe congenital neutropenia.
abstract: Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency is a newly described syndromic type of severe congenital neutropenia, associated with multiple organ abnormalities including facial, cardiac, and urogenital abnormalities, and increased visibility of superficial veins. The molecular pathophysiology of G6PC3 deficiency is associated with the disturbed glucose homeostasis, increased endoplasmic reticulum stress, and apoptosis in neutrophils. We report a new case of G6PC3 deficiency caused by a novel homozygous G6PC3 gene mutation (p.Leu154Pro). Most remarkable is that the chronic neutropenia that originated from this novel G6PC3 genetic defect is also accompanied by some other unusual manifestations in this patient: myelokathexis and hypercholesterolemia.
authors.affiliation: Department of Pediatric Immunology, University School of Medicine, Ankara, Turkey. caneraytekin@yahoo.com
authors.forename: Caner
authors.initials: C
authors.lastname: Aytekin
authors.forename: Manuela
authors.initials: M
authors.lastname: Germeshausen
authors.forename: Nilden
authors.initials: N
authors.lastname: Tuygun
authors.forename: Figen
authors.initials: F
authors.lastname: Dogu
authors.forename: Aydan
authors.initials: A
authors.lastname: Ikinciogullari
mesh_terms: D000293:Adolescent; D000080984:Congenital Bone Marrow Failure Syndromes; D005260:Female; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D009154:Mutation; D009503:Neutropenia / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics
chemical_list: D016179:Granulocyte Colony-Stimulating Factor; D005952:Glucose-6-Phosphatase; C492193:G6PC3 protein, human