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

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 heterodupl...

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Bibliographic Details
Published in:Clinical genetics 2001-08, Vol.60 (2), p.125-131
Main Authors: Martin-Denavit, T, Duthel, S, Giraud, S, Olschwang, S, Saurin, JC, Plauchu, H
Format: Article
Language:English
Subjects:
Adenomatous Polyposis Coli - genetics
Adenomatous Polyposis Coli - pathology
Adenomatous Polyposis Coli Protein
APC germline mutation
Base Sequence
Biological and medical sciences
Codon - genetics
Cytoskeletal Proteins - genetics
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
Family Health
Fatal Outcome
Female
Gardner syndrome
Gastroenterology. Liver. Pancreas. Abdomen
Genetic Variation
Germ-Line Mutation
Humans
intra- and interfamilial phenotype variability
Medical sciences
modifier effect
Other diseases. Semiology
Pedigree
Phenotype
Sequence Deletion
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
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Summary: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.
ISSN:0009-9163
1399-0004
DOI:10.1034/j.1399-0004.2001.600206.x