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Pediatr Blood Cancer. 2011 Aug;57(2):332-5. doi: 10.1002/pbc.23104. Epub 2011 Mar 21.

Four novel ELANE mutations in patients with congenital neutropenia.

Author information

1
Evrogen Joint Stock Company, Moscow, Russia. kurnikova@evrogen.ru

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.

PMID:
21425445
DOI:
10.1002/pbc.23104
[Indexed for MEDLINE]

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