A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly

Mol Cell Probes. 1994 Aug;8(4):325-7. doi: 10.1006/mcpr.1994.1045.


Mutations of the fibrillin gene (FBN1) are known to cause classical Marfan's syndrome, ectopia lentis and neonatal Marfan's syndrome. We have identified a novel missense mutation in exon 28 of the FBN1 gene (R1170H) which is responsible for an atypical marfanoid phenotype characterised by dolichostenomelia and arachnodactyly.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • DNA / genetics
  • Exons
  • Female
  • Fibrillin-1
  • Fibrillins
  • Humans
  • Marfan Syndrome / genetics*
  • Marfan Syndrome / pathology
  • Microfilament Proteins / genetics*
  • Middle Aged
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction


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