20th July 2023

A 10-year-old boy has been referred to a geneticist by his GP. His mother has a diagnosis of Peutz-Jeghers syndrome

A 10-year-old boy has been referred to a geneticist by his GP. His mother has a diagnosis of Peutz-Jeghers syndrome and has noticed that he is developing dark spots on his lips, fingers and toes. The geneticist requests blood tests to look for the presence of gene mutations to confirm a diagnosis of Peutz-Jeghers syndrome.

Which gene mutation is associated with this condition?

Select the SINGLE most appropriate option from the list below. Select ONE option only.