Background: Children with Peutz-Jeghers syndrome (PJS) suffer from the continuous growth of polyps in their gastrointestinal tracts. Limited research on PJS has found that truncating mutations of the serine/threonine kinase 11 (STK11) gene may correlate with early symptoms and a greater number of polyps. Thus, further studies correlating the genetic and clinical characteristics of PJS would increase our understanding of this condition and improve recommendations for treatment.
Aims: Our study was designed to characterize the genetic and clinical characteristics of four Chinese PJS children (two girls and two boys) and their affected relatives from Southern China.
Results: One recurrent missense mutation (c.487G>C) and two novel nonsense (truncation) mutations (c.717G>A and c.871G>T) in the STK11 gene were identified. The two boys with nonsense mutations underwent their first surgeries at younger ages (2 and 4 years) compared to the others. The two girls underwent their first surgeries at similar ages, though the girl with the nonsense mutation underwent more surgeries than the girl with the missense mutation. The children with truncation mutations had medium to high counts of hamartomatous polyps, whereas the girl with the missense mutation had a lower count. The clinical findings were similar among affected individuals within each of the three families.
Conclusions: These cases are consistent with previous findings, thus we conclude that children with nonsense mutations in STK11 should be closely monitored for polyp formation.