title: Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia.
abstract: Mutations in the ELA2 gene encoding human neutrophil elastase have been reported recently to be involved in the aetiology of both, cyclic (CyN) and congenital neutropenia (CN). We analysed the correlation between the occurrence of ELA2 mutations and the neutropenic phenotype in a family with two children affected with CN. The two children harboured the same heterozygous mutation in the ELA2 gene that was inherited from their unaffected father. We conclude that ELA2 mutations are not the single cause of CN although they might be a necessary prerequisite for the expression of the neutropenic phenotype in a subgroup of CN patients.
authors.affiliation: Department of Paediatric Haematology and Oncology, Medizinische Hochschule Hannover, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Germeshausen
authors.forename: H
authors.initials: H
authors.lastname: Schulze
authors.forename: M
authors.initials: M
authors.lastname: Ballmaier
authors.forename: C
authors.initials: C
authors.lastname: Zeidler
authors.forename: K
authors.initials: K
authors.lastname: Welte
mesh_terms: D002452:Cell Count; D002454:Cell Differentiation; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009503:Neutropenia / Q000097:blood / Q000235:genetics*; D009504:Neutrophils / Q000201:enzymology*; D010196:Pancreatic Elastase / Q000235:genetics*; D010375:Pedigree
chemical_list: D010196:Pancreatic Elastase