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

Eur J Med Genet. 2010 Sep-Oct;53(5):299-302. doi: 10.1016/j.ejmg.2010.06.002. Epub 2010 Jun 9.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Substitution*
  • Child
  • Exons
  • Female
  • Fibrillin-1
  • Fibrillins
  • Heterozygote
  • Humans
  • Male
  • Marfan Syndrome*
  • Microfilament Proteins / genetics*
  • Microfilament Proteins / metabolism
  • Middle Aged
  • Mutation, Missense*

Substances

  • FBN1 protein, human
  • Fibrillin-1
  • Fibrillins
  • Microfilament Proteins