Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen γ-chain gene as a novel mechanism for congenital afibrinogenaemia

Silvia Spena, Rosanna Asselta, Manuela Platé, Giancarlo Castaman, Stefano Duga, Maria Luisa Tenchini

Research output: Contribution to journalArticlepeer-review

Abstract

Congenital afibrinogenaemia, characterized by severe fibrinogen deficiency, is caused by mutations within FGA, FGB or FGG. Conventional sequencing of coding regions and splice signals of these three genes did not reveal any mutation in an afibrinogenaemic proband. After confirming disease co-segregation with the fibrinogen cluster, full intron sequencing was tackled leading to the identification of a novel transvertion within FGG intron 6 (IVS6-320A→T). Its effect on mRNA processing was evaluated in-vitro: the in-frame inclusion of a 75-bp pseudo-exon carrying a premature stop was found, representing the first report of pseudo-exon activation as a mechanism leading to afibrinogenaemia.

Original languageEnglish
Pages (from-to)128-132
Number of pages5
JournalBritish Journal of Haematology
Volume139
Issue number1
DOIs
Publication statusPublished - Oct 2007

Keywords

  • Afibrinogenaemia
  • Deep-intronic mutation
  • Fibrinogen
  • Fibrinogen γ-chain gene
  • Pseudo-exon activation

ASJC Scopus subject areas

  • Hematology

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