Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
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.
Zori
R T
RT
Department of Pediatrics, University of Florida, Gainesville 32606, USA. ZORIRT@Peds.ufl.edu
Marsh
D J
DJ
Graham
G E
GE
Marliss
E B
EB
Eng
C
C
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
D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human