Identification of c.104T>G, p.Met35Arg (NM_00314.8) heterozygous variant in exon 2 of <i>PTEN</i> as the causative factor for Cowden syndrome: a medical case study-Reference-Cited by-同舟云学术

Identification of c.104T>G, p.Met35Arg (NM_00314.8) heterozygous variant in exon 2 of PTEN as the causative factor for Cowden syndrome: a medical case study

Published:2023-10-11 Issue:2 Volume:49 Page:203-205
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:

Author:

Mansilla-Polo Miguel¹²^ORCID,Escutia-Muñoz Begoña¹²,Llavador-Ros Margarita³,Botella-Estrada Rafael¹²⁴

Affiliation:

1. Dermatology Department

2. Instituto de Investigación Sanitaria La Fe (IIS La Fe) , Valencia , Spain

3. Pathology Department, Hospital Universitario y Politécnico La Fe , Valencia , Spain

4. Faculty of Medicine, Universidad de Valencia , Valencia , Spain

Abstract

A representative case of Cowden syndrome with florid mucocutaneous manifestations is presented. A genetic study revealed the c.104T>G, p.Met35Arg (NM_00314.8) heterozygous variant in exon 2 of PTEN. A satisfactory response of skin lesions to sirolimus was obtained.

Publisher

Oxford University Press (OUP)

Subject

Dermatology

Link

https://academic.oup.com/ced/advance-article-pdf/doi/10.1093/ced/llad344/53470416/llad344.pdf

Reference8 articles.

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3. The clinical spectrum of PTEN mutations;Yehia;Annu Rev Med,2020

4. Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome clinical features;Pilarski;J Med Genet,2011

5. Gene-specific criteria for PTEN variant curation: recommendations from the ClinGen PTEN Expert Panel;Mester;Hum Mutat,2018

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