A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian marfan patients

L. Evangelisti, L. Lucarini, M. Attanasio, I. Lapini, B. Giusti, C. Porciani, G. F. Gensini, R. Abbate, G. Pepe

Research output: Contribution to journalArticlepeer-review

Abstract

The Fibrillin-1 gene (FBN1; chromosome 15q21.1) encodes a major glycoprotein component of the extracellular matrix. Mutations in FBN1, TGFBR1, TGFBR2 are known to cause Marfan syndrome (MIM .154700), a pleiotropic disorder. In the present study, we describe five novel missense .FBN1 mutations in five Marfan patients that have the peculiarity to activate two contemporary mutational mechanisms: a missense mutation and exon skipping.

Original languageEnglish
Pages (from-to)299-302
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume53
Issue number5
DOIs
Publication statusPublished - Sep 2010

Keywords

  • Alternative splicing
  • FBN1 mutations
  • Fibrillin
  • Marfan syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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