Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome

Patrick Booms, Jason Cisler, Kurt R. Mathews, Maurice Godfrey, Frank Tiecke, Ursula C. Kaufmann, Ulrich Vetter, Christian Hagemeier, Peter N. Robinson

Research output: Contribution to journalArticlepeer-review

77 Scopus citations


The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue that involves principally the skeletal, ocular, and cardiovascular systems. The most severe end of the phenotypic spectrum, the neonatal Marfan syndrome (nMFS), is characterized by pronounced atrioventricular valve dysfunction, and death often occurs within the first year of life due to congestive heart failure. Mutations in the gene coding for fibrillin-1, FBN1, are known to cause Marfan syndrome, and have been identified in almost all exons of FBN1. Here, we describe a novel mutation affecting the invariant +1 position of the splice donor site in intron 31, associated with skipping of exon 31, in a patient with nMFS. Published reports of nMFS are reviewed and a strict definition for nMFS is suggested. If this definition is used, all nMFS mutations reported to date lie in one of two hot spots, comprising mainly missense mutations in FBN1 exons 24-27 and mutations causing skipping of exon 31 or 32.

Original languageEnglish (US)
Pages (from-to)110-117
Number of pages8
JournalClinical Genetics
Issue number2
StatePublished - 1999


  • FBN1
  • Fibrillin-1
  • Marfan syndrome
  • Neonatal
  • TGGE

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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