A novel Wiskott-Aldrich syndrome protein (WASP) complex mutation identified in a WAS patient results in an aberrant product at the C-terminus from two transcripts with unusual polyA signals.

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  • Additional Information
    • Source:
      Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1434-5161 (Print) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
    • Publication Information:
      Publication: 2009- : London : Nature Pub. Group
      Original Publication: Tokyo : Springer-Verlag, c1998-
    • Subject Terms:
      Alternative Splicing/*genetics ; Mutation/*genetics ; Poly A/*genetics ; RNA, Messenger/*metabolism ; Wiskott-Aldrich Syndrome/*genetics ; Wiskott-Aldrich Syndrome Protein/*genetics; Base Sequence ; Blotting, Western ; Chromosome Inversion/genetics ; DNA Primers ; Humans ; Infant ; Introns/genetics ; Male ; Molecular Sequence Data ; RNA, Messenger/genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA ; Sequence Deletion/genetics ; Spain
    • Abstract:
      Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by immunodeficiency, thrombocytopenia and eczema. A broad spectrum of mutations in the WASP gene has been identified as causing the disease. In the present paper, we report on a patient affected by WAS with a novel complex mutation, characterized by a small 9 bp deletion followed by an inversion of 151 bp and a gross deletion of 4.3 kb within the Xp11.23 region. The small deletion and the inverted fragment are found in intron 11. The large deletion initiates downstream of exon 11 of the WASP gene, including exon 12, and a genomic region upstream of the promoter of the contiguous SUV39H1 gene. Expression studies of the mRNA of the patient's sample showed the presence of two aberrant transcripts that code for a protein of 519 amino acids. We demonstrate that these two transcripts differ in the 3' UTR region, and result from the use of two alternative polyadenylation signals. The severe phenotype of the patient correlates with the presence of an aberrant protein.
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    • Accession Number:
      0 (DNA Primers)
      0 (RNA, Messenger)
      0 (Wiskott-Aldrich Syndrome Protein)
      24937-83-5 (Poly A)
    • Publication Date:
      Date Created: 20051224 Date Completed: 20061005 Latest Revision: 20200228
    • Publication Date:
      20221213
    • Accession Number:
      10.1007/s10038-005-0328-7
    • Accession Number:
      16372137