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Marfan-like habitus and familial adenomatous polyposis in two unrelated males: a significant association?
- Source :
-
European journal of human genetics : EJHG [Eur J Hum Genet] 1999 Jul; Vol. 7 (5), pp. 609-14. - Publication Year :
- 1999
-
Abstract
- Familial adenomatous polyposis (FAP) can be considered as a condition of the whole body as extracolonic features derived from all the three embryonic lineages are recorded with varying frequency in addition to the presence of multiple adenomas in the large intestine. Here, we describe two unrelated cases of FAP with unusual extracolonic phenotypes, namely several abnormalities of mesodermal origin strongly resembling Marfan syndrome (MFS) or a Marfan-like habitus. Conventional cytogenetic and FISH analysis did not reveal any gross chromosomal rearrangement on the long arm of chromosome 5 where the APC and FBN2 genes were located. However, in case 2 the FAP-causing mutation in the APC gene was found in the donor splice site of exon 4 and was shown to result in a frameshift and a premature termination codon. We propose that such connective tissue abnormalities may result from germline APC mutations in combination with specific genetic and/or environmental modifying factors.
- Subjects :
- Adenomatous Polyposis Coli complications
Adult
Amino Acid Sequence
Female
Fibrillin-2
Fibrillins
Genes, APC
Humans
In Situ Hybridization, Fluorescence
Male
Marfan Syndrome complications
Microfilament Proteins genetics
Molecular Sequence Data
Mutation
Pedigree
Adenomatous Polyposis Coli genetics
Marfan Syndrome genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1018-4813
- Volume :
- 7
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- European journal of human genetics : EJHG
- Publication Type :
- Academic Journal
- Accession number :
- 10439970
- Full Text :
- https://doi.org/10.1038/sj.ejhg.5200350