Novel WASP mutation in a patient with Wiskott-Aldrich syndrome: Case report and review of the literature
| Autor: | Mahnaz Sadeghi-Shabestari, F. Najmi Varzaneh, A. Zare Bidoki, Maryam Eghbali, Nima Rezaei |
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| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Pulmonary and Respiratory Medicine Male Wiskott–Aldrich syndrome Immunology DNA Mutational Analysis Eczema Prenatal diagnosis Iran Malignancy medicine.disease_cause 03 medical and health sciences Exon 0302 clinical medicine medicine Immunology and Allergy Humans Gene X chromosome Mutation business.industry Infant General Medicine Exons medicine.disease Thrombocytopenia Pedigree Wiskott-Aldrich Syndrome Mutagenesis Insertional 030104 developmental biology 030220 oncology & carcinogenesis Mutation testing business Wiskott-Aldrich Syndrome Protein |
| Zdroj: | Allergologia et immunopathologia. 44(5) |
| ISSN: | 1578-1267 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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