title: A case of syndromic neutropenia and mutation in G6PC3.
abstract: BACKGROUND
  A previously unrecognized syndrome with congenital neutropenia and various organ abnormalities has been described recently, caused by mutations in the gene encoding glucose-6-phosphatase, catalytic subunit 3 (G6PC3).
  
  
  METHODS
  A 10-year-old boy from Ecuador suffering from severe neutropenia and multiple nonhematopoietic abnormalities was admitted to our department. We identified a novel mutation in the G6PC3 gene (c. 765_delAG; p.S255fs).
  
  
  CONCLUSIONS
  This is the first case of G6PC3 deficiency in a patient from South America, caused by a novel mutation in the G6PC3 gene. Our results give insights into the molecular and clinical variability of this disease.
authors.affiliation: Division of Pediatric Hematology/Oncology, G Salesi Women's and Children's Hospital, Institute of Mother and Child Health, Polytechnic University of Marche, Italy. simona.gatti@hotmail.it
authors.forename: Simona
authors.initials: S
authors.lastname: Gatti
authors.forename: Kaan
authors.initials: K
authors.lastname: Boztug
authors.forename: Annalisa
authors.initials: A
authors.lastname: Pedini
authors.forename: Claudia
authors.initials: C
authors.lastname: Pasqualini
authors.forename: Veronica
authors.initials: V
authors.lastname: Albano
authors.forename: Christoph
authors.initials: C
authors.lastname: Klein
authors.forename: Paolo
authors.initials: P
authors.lastname: Pierani
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002454:Cell Differentiation; D002648:Child; D000080984:Congenital Bone Marrow Failure Syndromes; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009503:Neutropenia / Q000150:complications / Q000151:congenital / Q000235:genetics / Q000473:pathology; D013577:Syndrome
chemical_list: D005952:Glucose-6-Phosphatase; C492193:G6PC3 protein, human