Mutation analysis of STK11 in a family with Peutz-Jeghers syndrome

Objective Detecting the serine/threonine kinase(STK11) gene mutation in the PJS family and analyzing the pathogenic mechanism of the detected mutation. Methods The genomic DNA of patients and normal people in the family was extracted from peripheral blood, all exons and flanking sequences of STK11 were amplified by PCR.The amplified products were directly sequencing. Results The pathogenic mutation of this family was the nonsense mutation(c.250A>T), which produced a truncated protein of only 84 amino acids. Conclusion The pathogenic mutation in STK11 in this PJS family is c. 250A>T(p.K84*). The pathogenic mechanism is that the truncated protein deletes most of the kinase catalytic domain, resulting in a significant decrease in the activity of p53.This mutation has a high risk of tumor susceptibility, and it is recommended that the patients of this family have regular clinical follow-up. Key words: Peutz-Jeghers syndrome; STK11 gene; Truncated protein; Tumor susceptibility