Four Novel ELANE Mutations in Patients With Congenital Neutropenia

被引：9

作者：

Kurnikova, Maria ^{[1
]}

Maschan, Michael ^{[2
]}

Dinova, Evgeniya ^{[2
]}

Shagina, Irina ^{[1
]}

Finogenova, Natalia ^{[2
]}

Mamedova, Elena ^{[2
]}

Polovtseva, Tatyana ^{[2
]}

Shagin, Dmitry ^{[1
,3
]}

Shcherbina, Anna ^{[2
]}

机构：

[1] Evrogen JSC, Moscow 117997, Russia

[2] Fed Res & Clin Ctr Pediat Hematol Oncol & Immunol, Moscow, Russia

[3] RAS, Shemyakin & Ovchinnikov Inst Bioorgan Chem, Moscow 117901, Russia

来源：

PEDIATRIC BLOOD & CANCER | 2011年 / 57卷 / 02期

关键词：

cyclic neutropenia; ELANE; ELA2; neutropenia; neutrophil elastase; ELASTASE; PHENOTYPE;

D O I：

10.1002/pbc.23104

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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. Pediatr Blood Cancer 2011;57:332-335. (C) 2011 Wiley-Liss, Inc.

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页码：332 / 335

页数：4

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