A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B

Blood. 1986 Oct;68(4):961-3.


We have studied a family of three patients who were severely afflicted with hemophilia B without inhibitor for their factor IX genes through the use of factor IX cDNA and genomic DNA probes. The patients had detectable (30% of normal) factor IX antigen. DNA hybridization analysis demonstrated that these patients had a partial intragenic deletion in their factor IX gene. This 2.8-kb deletion included exon d and the surrounding sequences. This exon codes for the amino acid sequence from No. 47 through 84 of the factor IX protein and contains its first potential EGF domain; the de novo occurrence of the mutation in the grandfather's germ cells was established by linkage analysis. This specific gene has been named F IXStrasbourg.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion
  • Epidermal Growth Factor / genetics
  • Factor IX / genetics*
  • Hemophilia B / genetics*
  • Humans
  • Pedigree
  • Polymorphism, Restriction Fragment Length


  • Epidermal Growth Factor
  • Factor IX