Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome

Area of Science:

• Genetics
• Oncology
• Gastroenterology

Background:

• Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder.
• Characterized by GI hamartomatous polyps, mucocutaneous hyperpigmentation, and increased cancer risk.
• Mutations in the serine-threonine kinase 11 (STK11) gene are the primary cause.

Purpose of the Study:

• To investigate STK11 gene mutations in Chinese PJS families.
• To expand the known spectrum of STK11 mutations.
• To explore genotype-phenotype correlations in PJS.

Main Methods:

• Sanger sequencing and MLPA assay were used for STK11 mutation screening.
• Analysis was performed on blood samples from six PJS families (eight patients).
• Genotype-phenotype correlations were assessed.

Main Results:

• Six Chinese PJS families revealed three novel STK11 mutations (c.721G>C, c.645_726del82, del(exon2-5)) and three recurrent mutations (c.752G>A, c.545T>C, del(exon1)).
• Truncating STK11 mutations were associated with more severe clinical complications.
• The findings broaden the known mutation spectrum of the STK11 gene.

Conclusions:

• The study expands the STK11 mutation spectrum in PJS.
• Identifying novel and recurrent mutations aids in genetic diagnosis.
• Findings support enhanced clinical surveillance for PJS patients, particularly those with truncating mutations.