1.
Pediatr Blood Cancer
; 57(2): 332-5, 2011 Aug.
Artículo
en Inglés
| MEDLINE
| ID: mdl-21425445
RESUMEN
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.
Asunto(s)
Elastasa de Leucocito/genética , Mutación , Neutropenia/congénito , Neutropenia/genética , Adolescente , Adulto , Estudios de Casos y Controles , Niño , Preescolar , Salud de la Familia , Femenino , Humanos , Lactante , Masculino , Neutropenia/epidemiología , Federación de Rusia/epidemiología
2.
Alu-mediated recombination in the HAX1 gene as the molecular basis of severe congenital neutropenia.
Am J Med Genet A
; 155A(3): 660-1, 2011 Mar.
Artículo
en Inglés
| MEDLINE
| ID: mdl-21344642