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 BannayanRiley-Ruvalcaba syndrome are one causal entity. © 1998 Wiley-Liss, Inc.