Non-allelic heterogeneity of familial adenomatous polyposis

Am J Med Genet. 1993 Sep 15;47(4):563-7. doi: 10.1002/ajmg.1320470425.


Linkage studies on familial adenomatous polyposis (FAP) reported so far suggest that FAP is a genetically homogeneous disease. Recently, we found that the putative gene for Turcot syndrome, an apparently autosomal recessive clinical variant of FAP, is not allelic to FAP. Here we describe another family, segregating for an autosomal dominant disease clinically indistinguishable from FAP but genetically not linked to the APC locus, adding further evidence for the occurrence of non-allelic heterogeneity of FAP. These observations have implications to the linkage-based genetic counselling of persons at risk for FAP especially when they are drawn from small families giving insufficient information.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenomatous Polyposis Coli / diagnostic imaging
  • Adenomatous Polyposis Coli / genetics*
  • Alleles*
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Pedigree
  • Radiography