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Article

Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.

Human molecular genetics - 1 Mar 1995

Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Böker T, Augustin A, Kadmon M, Möslein G, Thomas G

Abstract excerpt

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...

Topics

Adenomatous Polyposis Coli
Adenomatous Polyposis Coli Protein
Codon
Cytoskeletal Proteins
Female
Desmoid Tumors
France
Germany
Humans
Hypertrophy
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Models, Genetic

Mutation

Pigment Epithelium of Eye

Polymorphism, Single-Stranded Conformational

Sequence Analysis, DNA

Source

Identifiers

PMID: 7795585
DOI: 10.1093/hmg/4.3.337

Genes

APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7795585-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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