Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family

Am J Med Genet. 2001 Nov 22;104(2):147-51. doi: 10.1002/ajmg.10061.


Syndactyly type 1 (SD1) is the most common type of syndactyly, inherited in an autosomal dominant fashion and characterized by complete or partial webbings between the third and fourth fingers and/or between the second and third toes. We recently encountered an Iranian family in which 33 members in six generations were affected with SD1. As a locus of SD1 in a German family has recently been assigned to chromosome 2q34-q36, we performed a linkage analysis of the Iranian SD1 in order to know whether the disorder is genetically homogeneous. With the analysis on 15 affected and 16 unaffected persons in the Iranian family, using dinucleotide repeat polymorphisms as markers, we mapped the SD1 locus to 2q34-q36 with a maximum LOD score of 6.92 at a recombination fraction straight theta = 0.00 (penetrance = 1.00) for the D2S2179 locus. The result not only confirmed the gene assignment, but also suggests genetic homogeneity of the disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Chromosomes, Human, Pair 2*
  • Expressed Sequence Tags
  • Family Health
  • Female
  • Genetic Linkage
  • Genotype
  • Haplotypes
  • Humans
  • Iran
  • Lod Score
  • Male
  • Pedigree
  • Polymorphism, Genetic
  • Recombination, Genetic
  • Syndactyly / genetics*

Associated data

  • OMIM/185900