title: [The gene mutation analysis of a Wiskott-Aldrich syndrome family with normal mean platelet volume].
abstract: OBJECTIVE
  To investigate the history of a Wiskott- Aldrich syndrome (WAS) family with normal mean platelet volume (MPV), analyse the WASP gene mutation of to better understand its clinical characteristics.
  
  
  METHODS
  A four- generation WAS family histories of 22 members were investigated. Peripheral blood samples were collected from propositus and his mother to analyse all exon mutations of WASP gene using sanger sequencing.
  
  
  RESULTS
  The MPV of both propositus and his elder brother were normal. The patient's clinical score was 5, antibodies to PM-Scl, PCNA and PO were positive with very high level of ASO, the patient co- suffered from autoimmune disease, anemia, abnormal renal function, fungal infection and scleritis. A homozygous mutation (C>T) was found at 173 bp of exon 2, corresponding to amino acids Pro (P) 58 abnormally changed to Leu (L). His mother was the carrier of the mutation. Of 112 blood diseases- related genes, mutation frequencies of CBL, CREBBP, DNM2 and ADAMTS13 were higher than normals.
  
  
  CONCLUSIONS
  This was the first report the phenotype 173C>T mutation of WASP without eczema, but with normal MPV and autoimmune disease in Chinese, WAS should be recognized earlier and diagnosed correctly by genomic methods.
authors.affiliation: Institute of Hematology & Hospital of Blood Diseases, Chinese Academy of Medical Science & Peking Union Medical College, Tianjin 300020, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Institute of Hematology & Hospital of Blood Diseases, Chinese Academy of Medical Science & Peking Union Medical College, Tianjin 300020, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Shi
authors.affiliation: Institute of Hematology & Hospital of Blood Diseases, Chinese Academy of Medical Science & Peking Union Medical College, Tianjin 300020, China.
authors.forename: Xingxin
authors.initials: X
authors.lastname: Li
authors.affiliation: Institute of Hematology & Hospital of Blood Diseases, Chinese Academy of Medical Science & Peking Union Medical College, Tianjin 300020, China.
authors.forename: Yingqi
authors.initials: Y
authors.lastname: Shao
authors.forename: Chijia
authors.initials: C
authors.lastname: Liu
authors.affiliation: Institute of Hematology & Hospital of Blood Diseases, Chinese Academy of Medical Science & Peking Union Medical College, Tianjin 300020, China.
authors.forename: Meili
authors.initials: M
authors.lastname: Ge
authors.affiliation: Institute of Hematology & Hospital of Blood Diseases, Chinese Academy of Medical Science & Peking Union Medical College, Tianjin 300020, China.
authors.forename: Zhendong
authors.initials: Z
authors.lastname: Huang
authors.affiliation: Institute of Hematology & Hospital of Blood Diseases, Chinese Academy of Medical Science & Peking Union Medical College, Tianjin 300020, China.
authors.forename: Neng
authors.initials: N
authors.lastname: Nie
authors.affiliation: Institute of Hematology & Hospital of Blood Diseases, Chinese Academy of Medical Science & Peking Union Medical College, Tianjin 300020, China.
authors.forename: Jinbo
authors.initials: J
authors.lastname: Huang
authors.affiliation: Institute of Hematology & Hospital of Blood Diseases, Chinese Academy of Medical Science & Peking Union Medical College, Tianjin 300020, China.
authors.forename: Yizhou
authors.initials: Y
authors.lastname: Zheng
mesh_terms: D044466:Asian People; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D008297:Male; D063847:Mean Platelet Volume; D009154:Mutation; D010641:Phenotype; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics*
chemical_list: D051316:Wiskott-Aldrich Syndrome Protein