Variable expressivity and novel PTEN mutations in Cowden syndrome.

Autor: Machado RA; Department of Oral Diagnosis, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil. Electronic address: renatoassismachado@yahoo.com.br., Paranaíba LMR; Department of General Pathology, Federal University of Alfenas, Minas Gerais, Brazil., Martins L; Department of Prosthodontics and Periodontics, Division of Periodontics, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil., Melo-Filho MR; Stomatology Clinic, Dental School, University of Montes Claros, Montes Claros, Minas Gerais, Brazil., de Souza TT; Department of Oral Pathology, School of Dentistry, State University of Rio de Janeiro, Rio de Janeiro, Brazil., Picciani BLS; Department of Oral Pathology, School of Dentistry, State University of Rio de Janeiro, Rio de Janeiro, Brazil., Silva-Junior GO; Department of Oral Pathology, School of Dentistry, State University of Rio de Janeiro, Rio de Janeiro, Brazil., Cantisano MH; Department of Oral Pathology, School of Dentistry, State University of Rio de Janeiro, Rio de Janeiro, Brazil., Rocha BA; Post-graduation Program in Dentistry, School of Dentistry, Pontifícia Universidade Católica de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil., Pires FR; Department of Oral Pathology, School of Dentistry, State University of Rio de Janeiro, Rio de Janeiro, Brazil., Coletta RD; Department of Oral Diagnosis, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil.
Jazyk: angličtina
Zdroj: Oral surgery, oral medicine, oral pathology and oral radiology [Oral Surg Oral Med Oral Pathol Oral Radiol] 2019 Jan; Vol. 127 (1), pp. 55-61. Date of Electronic Publication: 2018 Sep 07.
DOI: 10.1016/j.oooo.2018.08.016
Abstrakt: Cowden syndrome (CS) is a phosphatase and tensin homolog gene (PTEN)-associated condition characterized by multiple mucocutaneous hamartomas and an increased risk of malignancies. We reported an isolated case and another of several individuals in one family affected by CS. The isolated case showed typical features, including fibrocystic breast disease, benign thyroid nodules, and multiple papillomatous lesions in the face and oral cavity, and the cause was a novel nonsense mutation-guanine (G) to thymine (T) transition at position 940 (c.940 G>T)-in PTEN. In the family, the proband showed erythema nodosum, duodenal ulcer, intestinal polyps, cervical lipoma, renal cysts, and glaucoma, whereas multiple members of her family were found to have intestinal polyps, and a sister had been diagnosed with breast cancer at early age. An intronic mutation-T>G transition at the +32 position of intron 8 (c.1026+32 T>G)-was found in this family, with in silico analysis revealing the creation of a new donor splice site. This study confirmed the involvement of PTEN in CS and the variable clinical expressivity of disease.
(Copyright © 2019 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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