Objective: To explore the procedures and methods for genetic diagnosis in one non-syndromic 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.
Conclusion: A practically genetic diagnosis procedure for NSVCN has been established, and the novel HAX1 gene mutation may contribute to the etiology of NSVCN.