Profuse familial adenomatous polyposis with an adenomatous polyposis coli exon 3 mutation.
The attenuated form of familial adenomatous polyposis coli (AAPC) is associated with mutations in the adenomatous polyposis coli (APC) gene which cluster in the 5' region of the gene. It has been proposed that a 'genotype-phenotype boundary' exists at codons 159-163, and mutations that are 5' of this boundary will produce AAPC. Herein we document a three-generation family with an exon 3 mutation well to the 5' side of the proposed boundary, in which two affected individuals have had, in their 40s, a profuse form of familial adenomatous polyposis coli. We conclude that the codon 159-163 'boundary' is indicative rather than definitive. These two patients also had postoperative intra-abdominal adhesions, severely so in one.
Victorian Clinical Genetics Services and Murdoch Childrens research Institute, Royal Children's Hospital, Melbourne, Australia.
S
S
Nasioulas
I T
IT
Jones
D J
DJ
St John
R J
RJ
Scott
S M
SM
Forrest
R J
RJ
McKinlay Gardner
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000368:Aged; D003062:Codon / Q000235:genetics*; D005091:Exons / Q000235:genetics; D017491:Genes, APC; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype
D003062:Codon