Genetic diagnosis of a patient with non-syndromic variants of congenital neutropenia
Xue, S.-l.; Chen, Y.; Qiu, Q.-c.; Feng, Y.-f.; Dai, L.; Qiao, M.; Wu, D.-p.
Zhonghua Nei Ke Za Zhi 50(11): 922-925
2011
ISSN/ISBN: 0578-1426 PMID: 22333123 Document Number: 648742
To explore the procedures and methods for genetic diagnosis in one non-syndromic variants of congenital neutropenia (NSVCN) patient and its pathogenic mutation. 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. A novel compound heterogeneous mutation consisting of two frame-shift mutations (c. 430-1insG and c. 655-9del5bp) was found in HAX1 gene. A practically genetic diagnosis procedure for NSVCN has been established, and the novel HAX1 gene mutation may contribute to the etiology of NSVCN.