Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444

Hum Mol Genet. 1995 Mar;4(3):337-40. doi: 10.1093/hmg/4.3.337.


An earlier study has shown that FAP patients with mutations in codons 136-302 of the APC gene do not develop congenital hypertrophy of the retinal pigment epithelium (CHRPE), whereas those with mutations in codons 463-1387 regularly do. Here we present data on 36 patients from 20 families with mutations in codons 1445-1578. These patients lack CHRPE. Furthermore, with the exception of three prepubertal children all patients with mutations in codons 1445-1578 developed desmoid tumours. This relationship between certain extracolonic manifestations and site of the APC mutation points to a specific role of the APC protein in different tissues.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Adenomatous Polyposis Coli Protein
  • Codon / genetics
  • Cytoskeletal Proteins / genetics*
  • Female
  • Fibromatosis, Aggressive / genetics*
  • France
  • Germany
  • Humans
  • Hypertrophy
  • Male
  • Models, Genetic
  • Mutation*
  • Pigment Epithelium of Eye / pathology*
  • Polymorphism, Single-Stranded Conformational
  • Sequence Analysis, DNA


  • Adenomatous Polyposis Coli Protein
  • Codon
  • Cytoskeletal Proteins