A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.

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  • Author(s): Dobbs AK;Dobbs AK; Yang T; Farmer DM; Howard V; Conley ME
  • Source:
    Clinical genetics [Clin Genet] 2007 Feb; Vol. 71 (2), pp. 171-6.
  • Publication Type:
    Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • Language:
    English
  • Additional Information
    • Source:
      Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
    • Publication Information:
      Original Publication: Copenhagen, Munksgaard.
    • Subject Terms:
      Mosaicism* ; Mutation*; Chromosomes, Human, X/*genetics ; Wiskott-Aldrich Syndrome Protein/*genetics; Adolescent ; Alleles ; Base Sequence ; Chromatids/genetics ; Codon/genetics ; DNA/genetics ; DNA Primers/genetics ; Exons ; Female ; Genetic Linkage ; Haplotypes ; Heterozygote ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Sequence Deletion ; Wiskott-Aldrich Syndrome/genetics ; X Chromosome Inactivation
    • Abstract:
      In genetic disorders caused by point mutations or small frameshift mutations, affected members of the same family are expected to have the same mutation in the causative gene. We have recently evaluated a family in which this was not the case. Maternal cousins with Wiskott-Aldrich syndrome (WAS; MIM 301000) had two different but contiguous single base pair deletions in WAS. The proband had an A deletion in codon 242 in exon 7 of WAS; his two cousins had a C deletion in codon 241. The mother of the proband was heterozygous for the A deletion allele, but her three sisters, including the mother of the affected cousins, were heterozygous for the C deletion. Both deletions occurred on the haplotype from the unaffected maternal great-grandfather. The maternal grandmother, who was a carrier of WAS, based on a non-random pattern of X chromosome inactivation in T cells, was mosaic for both deletions. These findings are most consistent with the mutations originating in a male gamete with different mutations on the two strands of DNA, a bichromatid mutation.
    • Grant Information:
      AI25129 United States AI NIAID NIH HHS; P30 CA21765 United States CA NCI NIH HHS
    • Accession Number:
      0 (Codon)
      0 (DNA Primers)
      0 (WAS protein, human)
      0 (Wiskott-Aldrich Syndrome Protein)
      9007-49-2 (DNA)
    • Publication Date:
      Date Created: 20070126 Date Completed: 20070411 Latest Revision: 20101118
    • Publication Date:
      20240829
    • Accession Number:
      10.1111/j.1399-0004.2007.00748.x
    • Accession Number:
      17250667