Novel WASP mutation in a patient with Wiskott–Aldrich syndrome: Case report and review of the literature

• M. Eghbali ^[1] ; M. Sadeghi-Shabestari ^[2] ; F. Najmi Varzaneh ^[1] ; A. Zare Bidoki ^[1] ; N. Rezaei ^[1]
  1. [1] Tehran University of Medical Sciences

     Tehran University of Medical Sciences

     Irán

     
  2. [2] Tabriz University Medical Sciences, Iran
• Localización: Allergologia et immunopathologia: International journal for clinical and investigate allergology and clinical immunology, ISSN-e 1578-1267, ISSN 0301-0546, Vol. 44, Nº. 5, 2016, págs. 450-454
• Idioma: inglés
• Texto completo no disponible (Saber más ...)
• Resumen

  • Background The Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive immunodeficiency disorder, caused by mutations in the WAS protein (WASP) gene and characterised by thrombocytopenia, small platelets, eczema, and recurrent infections associated with increased risk of autoimmunity and malignancy disorders. The gene for WAS has been mapped to the short arm of the X chromosome at Xp 11.22-23 and early detection of patients and diagnosis of new mutation might reduce related complications and increase their life expectancy.

    Method and result We found a novel mutation by sequence analysis of genomic DNA coding of a 9-month old boy suffering from WAS. The mutation was insertion G in exon 10 of WASP gene. The consequence of the G insertion is a premature stop immediately at amino acid 335 (N335X or p.G334GfsX1) and truncated protein.

    Conclusion The mutation analysis is helpful for the diagnosis of WAS patients and also expanding the spectrum of WASP mutations for carrier detection and prenatal diagnosis.