title: [Identification of two novel WASP gene mutations in 3 boys with Wiskott-Aldrich syndrome].
abstract: OBJECTIVE
  The Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency caused by mutations in the WAS protein (WASP) gene. The disease is characterized by recurrent infections, eczema, and thrombocytopenia with small platelets, and it is known to be associated with extensive clinical variability, and mutation studies indicated that genotypes are also highly variant among WAS patients. The present study was conducted to identify the mutation types of Wiskott-Aldrich syndrome protein (WASP) gene in 3 boys suffering from Wiskott-Aldrich syndrome.
  
  
  METHODS
  Based on the typical clinical manifestations of Wiskott-Aldrich syndrome including thrombocytopenia, eczema, and recurrent infections and scanning electron micrographs, 3 patients were suspected of having WAS. The WASP gene of the 3 patients and their mothers were detected by PCR-direct sequencing analysis.
  
  
  RESULTS
  By sequence analysis using sense and antisense primer separately, the authors found two novel WASP gene mutations. For the twin brothers, a C deletion at nucleotide 984 was detected in exon 10 of WASP gene (984delC). The consequence of the C deletion involved frameshift mutation after H317 and premature stop at 444 (H317fsX444). Their mother was a carrier of the mutated WASP gene. For another WAS patient, a nonsense mutation with nucleotide substitution of G to T at position 1388 (1388G-->T) in exon 11 of WASP gene, led to premature translational termination at amino acid position 452 (E452X). His mother had not been found to have WASP gene mutation.
  
  
  CONCLUSIONS
  Genetic analysis is useful in definite diagnosis of Wiskott-Aldrich syndrome patients and in carrier detection and prenatal diagnosis, especially of atypical or sporadic WAS patients.
authors.affiliation: Children's Hospital, Chongqing University of Medical Sciences, Chongqing 400014, China.
authors.forename: Li-ping
authors.initials: LP
authors.lastname: Jiang
authors.forename: You-hua
authors.initials: YH
authors.lastname: Xu
authors.forename: Xi-qiang
authors.initials: XQ
authors.lastname: Yang
authors.forename: En-mei
authors.initials: EM
authors.lastname: Liu
authors.forename: Li-jia
authors.initials: LJ
authors.lastname: Wang
authors.forename: Yu-lung
authors.initials: YL
authors.lastname: Lau
authors.forename: Koon-wing
authors.initials: KW
authors.lastname: Chan
mesh_terms: D001792:Blood Platelets / Q000473:pathology / Q000648:ultrastructure; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006801:Humans; D007223:Infant; D008214:Lymphocytes / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D008855:Microscopy, Electron, Scanning; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein
chemical_list: D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein