[Analysis of WAS gene mutation in a Chinese family affected with Wiskott-Aldrich syndrome].

Objective To detect potential mutation of the WAS gene in a Chinese family affected with Wiskott-Aldrich syndrome. Methods Peripheral blood samples were collected from the proband and his family members. All exons and flanking regions of the WAS gene were subjected to PCR amplification - Sanger sequencing as well as restriction endonuclease analysis. Plasma level of B-cell activating factor (BAFF) was also determined for all family members. Results A hemizygous mutation (c.257G>A) of the WAS gene was identified in all patients from the family, for which the patient’s mother was heterozygous. The same mutation was not found among healthy members of the family. Compared with unaffected members, all patients had a higher level of BAFF. Conclusion The c. 257G>A mutation of the WAS gene probably underlies the Wiskott-Aldrich syndrome in this family. Key words: Wiskott-Aldrich syndrome; WAS gene; Gene mutation; Genetic diagnosis