What genetic pattern is associated with Peutz-Jeghers syndrome?

Peutz-Jeghers syndrome is associated with an autosomal dominant pattern of inheritance. This means that an individual only needs to inherit one copy of the mutated gene from an affected parent to develop the syndrome. The disorder is primarily caused by mutations in the STK11/LKB1 gene, which is involved in regulating cell growth and has a significant role in the development of various benign and malignant tumors.

The autosomal dominant nature of Peutz-Jeghers syndrome leads to a characteristic clinical presentation, including the development of distinctive mucocutaneous pigmented lesions, gastrointestinal polyps, and an increased risk of certain cancers, especially gastrointestinal cancers. Because the syndrome is inherited in this manner, affected individuals have a 50% chance of passing the mutation to their offspring, which is why the genetic counseling and management of families with this syndrome are critical. Understanding this inheritance pattern helps guide the surveillance and treatment strategies for those impacted by the condition.