Variable expressivity and novel PTEN mutations in Cowden syndrome

Author(s):Show less -

Machado, Renato Assis ^[1] ; Ribeiro Paranaiba, Livia Maris ^[2] ; Martins, Luciane ^[3] ; Melo-Filho, Mario Rodrigues ^[4] ; de Souza, Thays Teixeira ^[5] ; Sayed Picciani, Bruna Lavinas ^[5] ; Silva-Junior, Geraldo Oliveira ^[5] ; Cantisano, Marilia Heffer ^[5] ; Rocha, Breno Amaral ^[6] ; Pires, Fabio Ramoa ^[5] ; Coletta, Ricardo D. ^[1]

Affiliation

^[1] Univ Estadual Campinas, Sch Dent, Dept Oral Diag, Sao Paulo - Brazil

^[2] Univ Fed Alfenas, Dept Gen Pathol, Alfenas, MG - Brazil

^[3] Univ Estadual Campinas, Sch Dent, Dept Prosthodont & Periodont, Div Periodont, Sao Paulo - Brazil

^[4] Univ Montes Claros, Sch Dent, Stomatol Clin, Montes Claros, MG - Brazil

^[5] Univ Estado Rio De Janeiro, Sch Dent, Dept Oral Pathol, Rio De Janeiro - Brazil

^[6] Pontificia Univ Catolica Minas Gerais, Sch Dent, Postgrad Program Dent, Belo Horizonte, MG - Brazil

• Document type: Journal article
• Source: ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY; v. 127, n. 1, p. 55-61, JAN 2019.
• Web of Science Citations: 2

Abstract

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. (AU)

• FAPESP's process: 16/02667-0 - Interactions Between Environment Factors and Polymorphic Variants in Genes Associated with Oxidative Stress in the Susceptibility of Nonsyndromic Oral Clefts
• Grantee: Ricardo Della Coletta
• Support Opportunities: Regular Research Grants