A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter

Am J Hum Genet. 1997 Feb;60(2):426-32.


Distal arthrogryposis type 1 (DA1) and Freeman-Sheldon syndrome (FSS) are the two most common known causes of inherited multiple congenital contractures. We recently have characterized a new disorder (DA2B) with a phenotype intermediate between DA1 and FSS. We report the mapping of a gene that causes DA2B to chromosome 11p15.5-pter. Linkage analysis in a single kindred generated a positive LOD score of 5.31 at theta = 0 with the marker D11S922, and recombinants localize the gene to an approximately 3.5-6.5-cM region between the marker TH and the telomere. Analysis of additional families improves the LOD score to 6.45 at theta = 0 and suggests linkage homogeneity for DA2B.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Arthrogryposis / genetics*
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 11*
  • Female
  • Haplotypes
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Recombination, Genetic
  • Syndrome