AAPD-QE Practice Exam

Peutz-Jeghers syndrome is associated with an autosomal dominant inheritance pattern. This means that an individual only needs to inherit one copy of the mutated STK11 gene from an affected parent to be at risk of developing the syndrome. In autosomal dominant conditions, the traits or disorders can manifest in every generation, and both males and females are equally likely to inherit and express the condition.

Because the syndrome is inherited in this manner, it often leads to a higher risk of developing certain types of tumors and characteristic mucocutaneous lesions, such as pigmented spots around the mouth and on the hands. Understanding the autosomal dominant inheritance helps in genetic counseling and assessing the risk for family members, as each child of an affected individual faces a 50% chance of inheriting the condition.