Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation

Nuria Andreu, Núria Pujol-Moix, Luis Martinez-Lostao, Marta Oset, Eduardo Muñiz-Diaz, Xavier Estivill, Victor Volpini, Cristina Fillat

Research output: Contribution to journalArticleResearchpeer-review

28 Citations (Scopus)


Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by immunodeficiency, eczema, and thrombocytopenia with small platelets. The phenotype of affected males is usually severe, although female carriers of the disorder have no clinical signs of the genetic defect. This is explained by the preferential selection of the normal, nonmutated X-chromosome, as the active allele in hematopoietic cells. In the present article we describe a female case of WAS, with a G-to-A transition in the WASP gene at nucleotide 291. She displays mild thrombocytopenia, with both normal and small-sized platelets. A methylation analysis of the HUMARA gene showed a nonrandom X-chromosome inactivation pattern in which the X-chromosome carrying the normal WASP gene was preferentially inactivated, leaving the mutant gene active. Thus, our results suggest that skewed X-inactivation, favoring the WASP-mutated allele, is the mechanism underlying the WAS phenotype of this girl. Moreover the results alert us to the fact that particular females, with a family history of WAS, may develop certain signs of the disease. © 2003 Elsevier Inc. All rights reserved.
Original languageEnglish
Pages (from-to)332-337
JournalBlood Cells, Molecules, and Diseases
Issue number3
Publication statusPublished - 1 Jan 2003


  • Carrier
  • Platelets
  • Skewed X-chromosome inactivation
  • Thrombocytopenia
  • Wiskott-Aldrich syndrome


Dive into the research topics of 'Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation'. Together they form a unique fingerprint.

Cite this