Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2

Eur J Hum Genet. 1996;4(5):292-5. doi: 10.1159/000472216.


Fibulin-2 (FBLN2) is a new extracellular matrix protein that has been considered a candidate gene for Marfan syndrome type 2 (locus MFS2) based on chromosomal colocation at 3p24.2-p25 and disease phenotype. In the absence of polymorphic markers reported for FBLN2, direct sequencing of the gene was performed and two intragenic polymorphisms were identified. Linkage was excluded between FBLN2 and the MFS2 gene. Furthermore, two-point lod scores were generated between these markers and anonymous markers arrayed on the genetic map of 3p and closely linked to MFS2. These analyses placed FBLN2 at marker D3S1585.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Calcium-Binding Proteins / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3*
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Fluorescent Antibody Technique, Indirect
  • Humans
  • Male
  • Marfan Syndrome / genetics*
  • Pedigree


  • Calcium-Binding Proteins
  • Extracellular Matrix Proteins
  • fibulin 2