Genotype-phenotype correlations in Peutz-Jeghers syndrome

Area of Science:

• Genetics
• Oncology
• Gastroenterology

Background:

• Peutz-Jeghers syndrome (PJS) is an inherited disorder.
• STK11 gene mutations are a common cause of PJS.

Purpose of the Study:

• To characterize symptom onset in PJS patients.
• To evaluate genotype-phenotype correlations in PJS.

Main Methods:

• Studied 42 probands for STK11 mutations.
• Utilized a historical cohort of 51 PJS patients.

Main Results:

• STK11 mutations found in 69% of PJS probands.
• Median onset for GI symptoms/polypectomy was 13 years.
• Missense mutations correlated with later symptom onset.

Conclusions:

• STK11 mutation analysis is recommended for PJS patients.
• Missense mutations indicate a later PJS symptom onset.
• Gastric polyps in PJS may aid chemoprevention research.