Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene

C. A. Marchese, F. Bertolino, B. Ceccopieri, M. Vanzetti, D. Scaglione, L. Locatelli, M. Montera, L. Romio, N. Resta, A. Stella, G. Guanti, C. Mareni

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Background: More than 100 different mutations in the adenomatous polyposis coli (APC) gene have been identified; virtually all lead to the production of a truncated protein. Clinical details of patients with missense mutations undoubtedly cosegregating with the disease have not been reported and may be relevant in understanding the APC protein function. Methods: In one family with familial adenomatous polyposis (FAP) the APC gene was analyzed by SSCP and sequencing of the aberrant SSCP band. Results: A missense mutation in exon 15 at nucleotide 4921 segregating with the disease was observed. This predicts a tryptophan instead of an arginine at amino acid 1641 of the APC protein. No such mutation was present in 100 control subjects. Conclusions: In this family the colonic manifestations are as expected for classical FAP. However, the occurrence of congenital hypertrophy of the retinal pigment epithelium is unusual, owing to the inconsistency of this manifestation between family members and because congenital hypertrophy of the retinal pigment epithelium is generally absent when mutations are after codon 1387.

Original languageEnglish
Pages (from-to)917-920
Number of pages4
JournalScandinavian Journal of Gastroenterology
Volume31
Issue number9
Publication statusPublished - 1996

Fingerprint

APC Genes
Adenomatous Polyposis Coli
Adenomatous Polyposis Coli Protein
Missense Mutation
Single-Stranded Conformational Polymorphism
Retinal Pigment Epithelium
Hypertrophy
Mutation
Codon
Tryptophan
Arginine
Exons
Nucleotides
Amino Acids
Proteins

Keywords

  • Adenomatous polyposis coli
  • Familial adenomatous polyposis
  • Mutation

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Marchese, C. A., Bertolino, F., Ceccopieri, B., Vanzetti, M., Scaglione, D., Locatelli, L., ... Mareni, C. (1996). Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene. Scandinavian Journal of Gastroenterology, 31(9), 917-920.

Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene. / Marchese, C. A.; Bertolino, F.; Ceccopieri, B.; Vanzetti, M.; Scaglione, D.; Locatelli, L.; Montera, M.; Romio, L.; Resta, N.; Stella, A.; Guanti, G.; Mareni, C.

In: Scandinavian Journal of Gastroenterology, Vol. 31, No. 9, 1996, p. 917-920.

Research output: Contribution to journalArticle

Marchese, CA, Bertolino, F, Ceccopieri, B, Vanzetti, M, Scaglione, D, Locatelli, L, Montera, M, Romio, L, Resta, N, Stella, A, Guanti, G & Mareni, C 1996, 'Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene', Scandinavian Journal of Gastroenterology, vol. 31, no. 9, pp. 917-920.
Marchese, C. A. ; Bertolino, F. ; Ceccopieri, B. ; Vanzetti, M. ; Scaglione, D. ; Locatelli, L. ; Montera, M. ; Romio, L. ; Resta, N. ; Stella, A. ; Guanti, G. ; Mareni, C. / Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene. In: Scandinavian Journal of Gastroenterology. 1996 ; Vol. 31, No. 9. pp. 917-920.
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AU - Vanzetti, M.

AU - Scaglione, D.

AU - Locatelli, L.

AU - Montera, M.

AU - Romio, L.

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AU - Stella, A.

AU - Guanti, G.

AU - Mareni, C.

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