Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4

Nat Genet. 1992 Sep;2(1):46-9. doi: 10.1038/ng0992-46.


Rieger syndrome is an autosomal dominant disorder of morphogenesis in which previous cytogenetic arrangements have suggested chromosome 4 as a candidate chromosome. Using a group of highly polymorphic short tandem repeat polymorphisms (STRP), including a new tetranucleotide repeat for epidermal growth factor (EGF), significant linkage of Rieger syndrome to 4q markers has been identified. Tight linkage to EGF supports its role as a candidate gene, although a recombinant in an unaffected individual has been identified. This study demonstrates the utility of using polymorphic STRP markers when only a limited number of small families are available for study.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anterior Eye Segment / abnormalities
  • Base Sequence
  • Chromosomes, Human, Pair 4*
  • DNA / genetics
  • Epidermal Growth Factor / genetics*
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Repetitive Sequences, Nucleic Acid
  • Tooth Abnormalities / genetics


  • Genetic Markers
  • Epidermal Growth Factor
  • DNA