Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia

  • Authors: Nuria Andreu, Núria Matamoros, Antonio Escudero, Cristina Fillat
  • View Affiliations

  • Published online on: Tuesday, May 1, 2007
  • Pages: 777-782
  • DOI: 10.3892/ijmm.19.5.777

Abstract

Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) are rare X-linked genetic disorders caused by mutations of the Wiskott-Aldrich syndrome protein (WASP) gene. Both disorders are clinically characterized by chronic thrombocytopenia of small platelets. WAS is a more severe form of the disorder and also courses with eczema, and immune dysfunction. In the present study, we investigated two novel mutations of the WASP gene in two Spanish families with patients clinically diagnosed as having XLT and WAS, respectively. In one of the families a missense mutation in exon 12 (1488A>G), resulting in the highly conserved glutamic residue changing to glycine at position 485 (D485G), was identified in several members. Notably, a female of this family, with clinical signs of XLT, was determined as the carrier of the mutation and showed a skewed pattern of X-inactivation, preferentially inactivating the X-chromosome carrying the wild-type allele. In the case of the second family, we describe a WAS patient with a single base deletion in exon 2 (266-267delA), resulting in a frameshift (at codon 78) that creates a stop codon at amino acid 127. As a consequence, there was no WASP expression.
Journal Cover

May 2007
Volume 19 Issue 5

Print ISSN: 1107-3756
Online ISSN:1791-244X

2012 Impact Factor: 1.957
Ranked #26/121 Medicine Research and Experimental
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APA
Andreu, N., Matamoros, N., Escudero, A., & Fillat, C. (2007). Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia. International Journal of Molecular Medicine, 19(5), 777-782.
MLA
Andreu, Matamoros, Escudero, and Cristina Fillat. "Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia." International Journal of Molecular Medicine International Journal of Molecular Medicine 19.5 (2007): 777-782.
Chicago
Andreu, Matamoros, Escudero, and Cristina Fillat. "Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia." International Journal of Molecular Medicine International Journal of Molecular Medicine 19 no. 5 (2007): 777-782.