Detection of Six Novel Mutations in WASP Gene in Fifteen Iranian Wiskott-Aldrich Patients
oleh: Sepideh Safaei, Mohammad Reza Fazlollahi, Masoud Houshmand, Amir Ali Hamidieh, Mohammad Hassan Bemanian, Samin Alavi, Farideh Mousavi, Zahra Pourpak, Mostafa Moin
| Format: | Article |
|---|---|
| Diterbitkan: | Tehran University of Medical Sciences 2012-12-01 |
Deskripsi
Wiskott-Aldrich syndrome (WAS) is a life-threatening X-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia, eczema, and recurrent infections, caused by mutations of the WAS protein (WASP) gene. The milder form of this disease is X-Linked thrombocytopenia (XLT) that presents only as platelet abnormalities. Mutation analysis for 15 boys with Wiskott-Aldrich syndrome was performed. Five previously reported mutations and six novel mutations including G8X, R41X, D283E, P412fsX446, E464X, and AfsX358 were detected.