Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.

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  • Additional Information
    • Source:
      Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE
    • Publication Information:
      Publication: New York, NY : Wiley-Liss
      Original Publication: New York, Liss 1977-2002.
    • Subject Terms:
      Codon, Nonsense* ; Frameshift Mutation* ; Mutation, Missense*; Proteins/*genetics ; Wiskott-Aldrich Syndrome/*genetics; Codon, Terminator/genetics ; Female ; Humans ; Male ; Pedigree ; Polymerase Chain Reaction ; Spain ; Wiskott-Aldrich Syndrome/ethnology ; Wiskott-Aldrich Syndrome Protein
    • Abstract:
      The Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency caused by mutations in the WASP gene. The disease is known to be associated with extensive clinical variability, and mutation studies indicate that genotypes are also highly variant among WAS patients. In this study, we performed mutation analysis of the WASP gene in 14 unrelated Spanish families by single strand conformation analysis (SSCA) and sequencing, resulting in the identification of a novel mutation and nine known mutations. No mutation was identified in one family. The ten different mutations include point mutations resulting in amino acid substitutions, stop codons, and small deletions and insertions causing frameshifts. Missense mutations were preferentially located in the amino-terminal part of the protein, exons 2 and 4, whereas stop and frameshift mutations were located in the carboxyl-terminal region, exons 10 and 11. However, in two families, two missense mutations in exon 11 were identified. Our study demonstrates that WASP genotypes have some concordance with the patients' phenotypes, although mutation 1019delC, identified in a family with several affected members, resulted in high intrafamilial clinical variability.
      (Copyright 2001 Wiley-Liss, Inc.)
    • Accession Number:
      0 (Codon, Nonsense)
      0 (Codon, Terminator)
      0 (Proteins)
      0 (WAS protein, human)
      0 (Wiskott-Aldrich Syndrome Protein)
    • Publication Date:
      Date Created: 20010412 Date Completed: 20010524 Latest Revision: 20190906
    • Publication Date:
      20221213
    • Accession Number:
      10.1002/ajmg.1228
    • Accession Number:
      11298372