6. PTEN Gene Mutations and Their Involvement in Bannayan-Riley-Ruvalcaba Syndrome
Our journey into the world of PTEN gene mutations brings us to the sixth fact – its significant role in the development of Bannayan-Riley-Ruvalcaba Syndrome (BRRS). BRRS is a rare genetic condition that presents itself through multiple symptoms, including macrocephaly, intestinal polyps, pigmented macules of the glans penis, and subcutaneous lipomas.
A PTEN gene mutation is often the culprit behind BRRS, with the majority of affected individuals carrying a mutation in this gene. The mutation interrupts the normal functioning of the gene, leading to unregulated cell growth and, consequently, the formation of benign tumors or hamartomas in various body parts.
While the symptoms of BRRS can vary considerably among individuals, the presence of macrocephaly and benign growths are generally considered characteristic signs of the condition. (6)
