A second locus for Rieger syndrome maps to chromosome 13q14

Am J Hum Genet. 1996 Sep;59(3):613-9.


Rieger syndrome is a genetically and phenotypically heterogeneous disorder typically characterized by malformations of the eyes, teeth, and umbilicus. The syndrome is inherited as an autosomal dominant trait and exhibits significant variable expressivity. One locus associated with this disorder has been mapped to 4q25. Using a large four-generation pedigree, we have identified a second locus for Rieger syndrome located on chromosome 13q14.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 13 / genetics*
  • Eye Abnormalities / genetics
  • Eye Diseases, Hereditary / genetics*
  • Genes, Dominant / genetics
  • Glaucoma / genetics
  • Humans
  • Male
  • Pedigree
  • Syndrome
  • Tooth Abnormalities / genetics
  • Umbilicus / abnormalities