A New Variant of the PTEN Gene in Relation to Cowden Syndrome Type 1.

Autor:	Fernández-Villares, Marina, Villegas-Romero, Isabel, Collantes-Rodríguez, Cristina, Linares-Barrios, Mario, Benito-Godino, Ana S., Mora-Lopez, Francisco
Předmět:	PHYSICAL diagnosis ADENOMATOUS polyps VITAMIN D deficiency BLOOD testing POLYMERASE chain reaction COWDEN syndrome MAGNETIC resonance imaging ENDOSCOPIC surgery GENETIC counseling GENETIC mutation GENETIC techniques THYROIDECTOMY ENDOSCOPY MEDICAL referrals SYMPTOMS
Zdroj:	Indian Journal of Dermatology; May/Jun2024, Vol. 69 Issue 3, p274-275, 3p
Abstrakt:	The article presents a case study of a 49-year-old male with Cowden syndrome type 1 (CWS1) who was found to have a novel Phosphatase and Tensin Homolog (PTEN) gene variant, c.100G>C, leading to a missense mutation p.Ala34Pro. Topics discussed include the patient's clinical presentation with dermatologic and gastrointestinal features, the genetic analysis of the PTEN gene identifying the new variant, and the implications for genetic counseling and diagnosis in CWS1.
Databáze:	Complementary Index
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