Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication

Haematologica. 2005 Jul;90(7):997-9.

Abstract

Ectopic mRNA was analyzed by reverse transcriptase polymerase chain reaction (RT-PCR) in patients with duplication of F8 gene exon 13, a mutation which has been demonstrated to be a cause of mild hemophilia A in 32% of Northern Italian subjects. Two different transcripts originate from mutated genomic DNA, due to alternative splice processes. The larger-sized transcript contains both duplicated exons 13, the smaller one contains only one exon 13. The residual FVIII:C activity which accounts for the mild hemophilia A phenotype derives from the latter transcript.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing
  • Exons*
  • Factor VIII / genetics*
  • Factor VIII / physiology*
  • Gene Duplication
  • Hemophilia A / genetics*
  • Humans
  • Introns
  • Italy
  • Models, Genetic
  • Phenotype
  • RNA, Messenger / metabolism

Substances

  • RNA, Messenger
  • Factor VIII