A second locus for Marfan syndrome maps to chromosome 3p24.2-p25

Nat Genet. 1994 Nov;8(3):264-8. doi: 10.1038/ng1194-264.


Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder characterized by skeletal, ocular and cardiovascular defects of highly variable expressivity. The diagnosis relies solely on clinical criteria requiring anomalies in at least two systems. By excluding the chromosome 15 disease locus, fibrillin 1 (FBN1), in a large French family with typical cardiovascular and skeletal anomalies, we raised the issue of genetic heterogeneity in MFS and the implication of a second locus (MFS2). Linkage analyses, performed in this family, have localized MFS2 to a region of 9 centiMorgans between D3S1293 and D3S1283, at 3p24.2-p25. In this region, the highest lod score was found with D3S2336, of 4.89 (theta = 0.05). By LINKMAP analyses, the most probable position for the second locus in MFS was at D3S2335.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3*
  • Female
  • Fibrillin-1
  • Fibrillins
  • Haplotypes / genetics
  • Humans
  • Lod Score
  • Male
  • Marfan Syndrome / classification
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / classification
  • Microfilament Proteins / genetics*
  • Minisatellite Repeats
  • Molecular Sequence Data
  • Pedigree


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