Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia
Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia
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DOI：
10.1046/j.1365-2141.2001.03069.x
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发表时间：
2001-10-01
影响因子：
6.5
通讯作者：
Welte, K
中科院分区：
文献类型：
--
作者：
Germeshausen, M;Schulze, H;Welte, K
编码人中性粒细胞弹性蛋白酶的ELA2基因突变最近被报道参与了这一过程。循环性(Cyn)和先天性中性粒细胞减少症(CN)的病因学我们分析了在一个有两个孩子患CN的家庭中，ELA2突变的发生与中性粒细胞减少表型的相关性。这两个孩子在ELA2基因上有相同的杂合突变，这是从他们未受影响的父亲那里遗传来的。我们得出结论，ELA2突变不是CN的单一原因，尽管它们可能是CN患者亚群中中性粒细胞减少表型表达的必要先决条件。
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.