title: Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
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.
authors.affiliation: Department of Pediatrics, University of Florida, Gainesville 32606, USA. ZORIRT@Peds.ufl.edu
authors.forename: R T
authors.initials: RT
authors.lastname: Zori
authors.forename: D J
authors.initials: DJ
authors.lastname: Marsh
authors.forename: G E
authors.initials: GE
authors.lastname: Graham
authors.forename: E B
authors.initials: EB
authors.lastname: Marliss
authors.forename: C
authors.initials: C
authors.lastname: Eng
mesh_terms: D000293:Adolescent; D005192:Family Health; D005767:Gastrointestinal Diseases / Q000150:complications / Q000235:genetics; D018095:Germ-Line Mutation; D006223:Hamartoma Syndrome, Multiple / Q000150:complications / Q000235:genetics*; D006801:Humans; D007859:Learning Disabilities / Q000150:complications / Q000235:genetics*; D008297:Male; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D010859:Pigmentation Disorders / Q000150:complications / Q000235:genetics*; D013577:Syndrome; D013959:Thyroid Diseases / Q000150:complications / Q000235:genetics; D025521:Tumor Suppressor Proteins
chemical_list: D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human