title: Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.
abstract: An earlier study has shown that FAP patients with mutations in codons 136-302 of the APC gene do not develop congenital hypertrophy of the retinal pigment epithelium (CHRPE), whereas those with mutations in codons 463-1387 regularly do. Here we present data on 36 patients from 20 families with mutations in codons 1445-1578. These patients lack CHRPE. Furthermore, with the exception of three prepubertal children all patients with mutations in codons 1445-1578 developed desmoid tumours. This relationship between certain extracolonic manifestations and site of the APC mutation points to a specific role of the APC protein in different tissues.
authors.affiliation: Institut für Humangenetik, Universität Bonn, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Caspari
authors.forename: S
authors.initials: S
authors.lastname: Olschwang
authors.forename: W
authors.initials: W
authors.lastname: Friedl
authors.forename: M
authors.initials: M
authors.lastname: Mandl
authors.forename: C
authors.initials: C
authors.lastname: Boisson
authors.forename: T
authors.initials: T
authors.lastname: Böker
authors.forename: A
authors.initials: A
authors.lastname: Augustin
authors.forename: M
authors.initials: M
authors.lastname: Kadmon
authors.forename: G
authors.initials: G
authors.lastname: Möslein
authors.forename: G
authors.initials: G
authors.lastname: Thomas
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein; D003062:Codon / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D018222:Desmoid Tumors / Q000235:genetics*; D005602:France; D005858:Germany; D006801:Humans; D006984:Hypertrophy; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
chemical_list: D025601:Adenomatous Polyposis Coli Protein; D003062:Codon; D003598:Cytoskeletal Proteins