Genetic diagnosis of a patient with non-syndromic variants of congenital neutropenia
10.3760/cma.j.issn.0578-1426.2011.11.006
- VernacularTitle:非综合征性先天性粒细胞减少症一例及基因诊断
- Author:
Shengli XUE
;
Yan CHEN
;
Qiaocheng QIU
;
Yufeng FENG
;
Lan DAI
;
Man QIAO
;
Depei WU
- Publication Type:Journal Article
- Keywords:
Gene diagnosis;
Neutropenia;
Leukemia,myelomonocytic,chronic;
HAX1 gene
- From:
Chinese Journal of Internal Medicine
2011;50(11):922-925
- CountryChina
- Language:Chinese
-
Abstract:
ObjectiveTo explore the procedures and methods for genetic diagnosis in one nonsyndromic variants of congenital neutropenia (NSVCN) patient and its pathogenic mutation.Methods Genomic DNA was prepared from one NSVCN patient who had progressed to chronic myelomonocytic leukemia and ELA2,HAX1,WASp and GFI1 genes were amplified and sequenced.Results A novel compound heterogeneous mutation consisting of two frame-shift mutations (c.430-1insG and c.655- 9del5bp) was found in HAX1 gene.ConclusionA practically genetic diagnosis procedure for NSVCN has been established,and the novel HAX1 gene mutation may contribute to the etiology of NSVCN.
