Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome

R T Zori; D J Marsh; G E Graham; E B Marliss; C Eng

Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome

Am J Med Genet. 1998 Dec 4;80(4):399-402.

Authors

R T Zori¹, D J Marsh, G E Graham, E B Marliss, C Eng

Affiliation

¹ Department of Pediatrics, University of Florida, Gainesville 32606, USA. ZORIRT@Peds.ufl.edu

PMID: 9856571

Abstract

Clinical overlap between Cowden disease and Bannayan-Riley-Ruvalcaba syndrome has rarely been described and identical germline mutations in the PTEN gene have been demonstrated in a few families with Cowden disease and some cases of Bannayan-Riley-Ruvalcaba syndrome. We report on a mother with Cowden disease and a son with Bannayan-Riley-Ruvalcaba syndrome. Mutation analysis of the PTEN gene demonstrated a heterozygous nonsense mutation R130X in both individuals. This might suggest that Cowden disease and Bannayan-Riley-Ruvalcaba syndrome are one causal entity.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Family Health
Gastrointestinal Diseases / complications
Gastrointestinal Diseases / genetics
Germ-Line Mutation*
Hamartoma Syndrome, Multiple / complications
Hamartoma Syndrome, Multiple / genetics*
Humans
Learning Disabilities / complications
Learning Disabilities / genetics*
Male
PTEN Phosphohydrolase
Phosphoric Monoester Hydrolases / genetics*
Pigmentation Disorders / complications
Pigmentation Disorders / genetics*
Syndrome
Thyroid Diseases / complications
Thyroid Diseases / genetics
Tumor Suppressor Proteins*

Substances

Tumor Suppressor Proteins
Phosphoric Monoester Hydrolases
PTEN Phosphohydrolase
PTEN protein, human