title: [Genetic diagnosis of a patient with non-syndromic variants of congenital neutropenia].
abstract: 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.
  
  
  CONCLUSIONS
  A practically genetic diagnosis procedure for NSVCN has been established, and the novel HAX1 gene mutation may contribute to the etiology of NSVCN.
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors.forename: Sheng-li
authors.initials: SL
authors.lastname: Xue
authors.forename: Yan
authors.initials: Y
authors.lastname: Chen
authors.forename: Qiao-cheng
authors.initials: QC
authors.lastname: Qiu
authors.forename: Yu-feng
authors.initials: YF
authors.lastname: Feng
authors.forename: Lan
authors.initials: L
authors.lastname: Dai
authors.forename: Man
authors.initials: M
authors.lastname: Qiao
authors.forename: De-pei
authors.initials: DP
authors.lastname: Wu
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000080984:Congenital Bone Marrow Failure Syndromes; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D009154:Mutation; D009503:Neutropenia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C104759:HAX1 protein, human