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

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.

Saved in:
Bibliographic Details
Published in:Clinical and experimental dermatology 2024-01, Vol.49 (2), p.203-205
Main Authors: Mansilla-Polo, Miguel, Escutia-Muñoz, Begoña, Llavador-Ros, Margarita, Botella-Estrada, Rafael
Format: Article
Language:English
Subjects:
Exons - genetics
Germ-Line Mutation
Hamartoma Syndrome, Multiple - genetics
Humans
PTEN Phosphohydrolase - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0307-6938
1365-2230
DOI:10.1093/ced/llad344