Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?

Clin Genet. 2001 Aug;60(2):125-31. doi: 10.1034/j.1399-0004.2001.600206.x.

Abstract

We report the cases of two familial adenomatous polyposis (FAP) families who presented with the same 2 base pair deletion (AG) at codon 1465 of the adenomatous polyposis coli (APC) gene, but showed phenotypic variability. The mutation was revealed by a simple nonradioactive method using a heteroduplex analysis and identified by a sequence analysis. This observation suggests the responsibility of modifier genes in FAP patients' phenotype.

Publication types

  • Case Reports

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Adenomatous Polyposis Coli / pathology
  • Adenomatous Polyposis Coli Protein
  • Base Sequence
  • Codon / genetics*
  • Cytoskeletal Proteins / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Fatal Outcome
  • Female
  • Genetic Variation
  • Germ-Line Mutation
  • Humans
  • Pedigree
  • Phenotype
  • Sequence Deletion

Substances

  • Adenomatous Polyposis Coli Protein
  • Codon
  • Cytoskeletal Proteins
  • DNA