Novel WASP mutation in a patient with Wiskott-Aldrich syndrome: case report and review of the literature
Allergol. immunopatol
; 44(5): 450-454, sept.-oct. 2016. graf
Article
em En
| IBECS
| ID: ibc-155858
Biblioteca responsável:
ES1.1
Localização: BNCS
ABSTRACT
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
RESUMEN
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Coleções:
06-national
/
ES
Base de dados:
IBECS
Assunto principal:
Trombocitopenia
/
Síndrome de Wiskott-Aldrich
/
Eczema
Tipo de estudo:
Screening_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Allergol. immunopatol
Ano de publicação:
2016
Tipo de documento:
Article