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.


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*


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