Mapping of a congenital microcoria locus to 13q31-q32

Am J Hum Genet. 1998 May;62(5):1117-22. doi: 10.1086/301841.


Congenital microcoria is an autosomal dominant disorder characterized by a pupil with a diameter <2 mm. It is thought to be due to a maldevelopment of the dilator pupillae muscle of the iris, and it is associated with juvenile-onset glaucoma. A total genome search for the location of the congenital microcoria gene was launched in a single large family. We found linkage between the disease and markers located on 13q31-q32 (Zmax = 9.79; theta = 0). Haplotype analysis narrowed the linked region to an interval <8 cM between markers D13S1239 proximally and D13S1280 distally.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 13*
  • Female
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Iris / abnormalities*
  • Male
  • Pedigree
  • Recombination, Genetic