Journal of Hebei Medical University ›› 2021, Vol. 42 ›› Issue (12): 1376-1381.doi: 10.3969/j.issn.1007-3205.2021.12.003

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Chinese reports of STK11 mutations in Peutz-Jeghers Syndrome: a qualitative study

  

  1. 1.Department of Gastroenterology, Shijitan Hospital Affiliated to Capital Medical University, Beijing 
    100038, China; 2.Physical Examination Center, Aerospace Central Hospital, Beijing 100040, China; 
    3.Department of Colorectal Surgery, Changhai Hospital, Shanghai 200433, China；4.Department of 
    Gastroenterology,Friendship Hospital Affiliated to Capital Medical University, Beijing 100050, 
    China; 5.Department of Gastroenterology, Airforce General Hospital of PLA, Beijing 100142, China
  • Online:2021-12-25 Published:2021-12-27

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Abstract: Objective  To perform a qualitative study on pathogenic mutations in STK11 gene in Chinese patients with Peutz-Jeghers syndrome(PJS), to analyze the existing ambiguity and faults, and to explore the potential cause. 
Methods  A comprehensive review of STK11 mutations reported in Chinese PJS patients was conducted, and the mutations were critically checked and compared to the information of accessible databases. 
Results  In total, 181 different mutations were found to be recorded in 55 literature, within which 108 was firstly reported by Chinese scholars. Within the 108 mutations, 27 were misidentified(22 recurrent and 5 novel), which was 25.0% of all the cases reported in these articles. The main reasons for misreporting mutations included incomplete database collection, distorted former information misled by wrong information, insufficient literature review, novel ones reported twice in a short period of time and naming errors due to repeated sequences. 
Conclusion  Error reporting happens due to several various reasons, therefore,it is very important and necessary to clarify the wrong information for the genetic counseling of PJS and related research.


Key words: Peutz-Jeghers syndrome, STK11 gene, mutation