title: Four novel ELANE mutations in patients with congenital neutropenia.
abstract: Congenital neutropenia is a heterogeneous bone marrow failure syndrome characterized by a maturation arrest of myelopoesis at the promyelocyte/myelocyte stage. Cyclic neutropenia (CyN) and severe congenital neutropenia (SCN) are two main forms of congenital neutropenia. Genetic analysis has shown that heterozygous mutations in the ELANE gene encoding the neutrophil elastase are the major cause of these disorders. We investigated the prevalence of ELANE mutations in a group of 16 patients from 14 families with congenital neutropenia. Five patients had typical manifestations of CyN, and 11 patients had SCN. Seven different heterozygous ELANE mutations were found, including four novel mutations.
authors.affiliation: Evrogen Joint Stock Company, Moscow, Russia. kurnikova@evrogen.ru
authors.forename: Maria
authors.initials: M
authors.lastname: Kurnikova
authors.forename: Michael
authors.initials: M
authors.lastname: Maschan
authors.forename: Evgeniya
authors.initials: E
authors.lastname: Dinova
authors.forename: Irina
authors.initials: I
authors.lastname: Shagina
authors.forename: Natalia
authors.initials: N
authors.lastname: Finogenova
authors.forename: Elena
authors.initials: E
authors.lastname: Mamedova
authors.forename: Tatyana
authors.initials: T
authors.lastname: Polovtseva
authors.forename: Dmitry
authors.initials: D
authors.lastname: Shagin
authors.forename: Anna
authors.initials: A
authors.lastname: Shcherbina
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D019272:Leukocyte Elastase / Q000235:genetics*; D008297:Male; D009154:Mutation; D009503:Neutropenia / Q000151:congenital* / Q000453:epidemiology / Q000235:genetics*; D012426:Russia / Q000453:epidemiology
chemical_list: D019272:Leukocyte Elastase