Bannayan-Riley-Ruvalcaba syndrome causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is caused by a mutation in the phosphatase and tensin homolog (PTEN) gene.

Causes

Genetic Cause

• Bannayan-Riley-Ruvalcaba syndrome (BRRS) is caused by a mutation in the phosphatase and tensin homolog (PTEN) gene.
• Different types of mutations occurs in PTEN gene and are as follows:
  • Germline intragenic mutations in PTEN gene
  • Gross gene deletions in PTEN gene
  • Mutations in the PTEN gene promoter region results in heterozygous germline mutations
  • Deletion in exons 1-5 of PTEN gene