title: Marfan-like habitus and familial adenomatous polyposis in two unrelated males: a significant association?
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.
authors.affiliation: Gastroenterology Department, Fundeni Hospital, Bucharest, Romania.
authors.forename: G
authors.initials: G
authors.lastname: Calin
authors.forename: J
authors.initials: J
authors.lastname: Wijnen
authors.forename: H
authors.initials: H
authors.lastname: van der Klift
authors.forename: A
authors.initials: A
authors.lastname: Ionita
authors.forename: A
authors.initials: A
authors.lastname: Mulder
authors.forename: C
authors.initials: C
authors.lastname: Breukel
authors.forename: R
authors.initials: R
authors.lastname: Smits
authors.forename: H
authors.initials: H
authors.lastname: Dauwerse
authors.forename: K
authors.initials: K
authors.lastname: Hansson
authors.forename: S
authors.initials: S
authors.lastname: Calin
authors.forename: D
authors.initials: D
authors.lastname: Stefanescu
authors.forename: A
authors.initials: A
authors.lastname: Oproiu
authors.forename: R
authors.initials: R
authors.lastname: Fodde
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000235:genetics*; D000328:Adult; D000595:Amino Acid Sequence; D005260:Female; D000071840:Fibrillin-2; D000071837:Fibrillins; D017491:Genes, APC; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008382:Marfan Syndrome / Q000150:complications / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
chemical_list: C000605723:FBN2 protein, human; D000071840:Fibrillin-2; D000071837:Fibrillins; D008840:Microfilament Proteins