Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR

Alexis Proust, Benoît Guillet, Capucine Picard, Geneviève de Saint Basile, Corinne Pondarré, Hannah Tamary, Marie Dreyfus, Gil Tchernia, Alain Fischer, Jean Delaunay

Research output: Contribution to journalArticlepeer-review

Abstract

The Wiskott-Aldrich syndrome (WAS) is an X-linked disorder including microthrombocytopenia, eczema and immunodeficiency. A mild form is known as the X-linked thrombocytopenia (XLT). We screened 150 individuals or families based on a multiplex PCR method. We found 28 novel mutations (7 missense, 1 nonsense, 1 nonstop change, 5 splice site mutations and 14 deletions or insertions). The method relied on the co-synthesis of 5 amplicons and direct sequencing, optimizing the novel protocol proposed by Jones et al. [L.N. Jones, M.I. Lutskiy, J. Cooley, et al. A novel protocol to identify mutations in patients with Wiskott-Aldrich syndrome, Blood Cells Mol. Dis. 28 (2002) 392-398]. It was thus possible to identify faster and at a lower cost the mutations in newly diagnosed patients. The mutation distribution, according to the type, was in keeping with the distribution reported previously. No clear-cut genotype-phenotype correlation was observed.

Original languageEnglish
Pages (from-to)102-106
Number of pages5
JournalBlood Cells, Molecules, and Diseases
Volume39
Issue number1
DOIs
StatePublished - Jul 2007

Keywords

  • Multiplex PCR
  • Novel mutations
  • WAS gene
  • Wiskott-Aldrich syndrome
  • X-linked thrombocytopenia

Fingerprint

Dive into the research topics of 'Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR'. Together they form a unique fingerprint.

Cite this