关于中国报道Peutz-Jeghers综合征中STK11突变的定性研究

目的 对已报道的中国Peutz-Jeghers综合征（Peutz-Jeghers syndrome, PJS）患者STK11基因致病突变进行定性研究，对存在问题和错误进行分析，探讨其可能发生的原因。 方法 对中国PJS患者中已报道的STK11基因致病突变进行了全面回顾，对其进行分析、检查，并与常用的数据库信息进行检索、比较。 结果 最终纳入55篇报道，共包含181种不同的STK11突变，其中中国学者首次报道108种。有27种突变存在错误（占比25.0%），分别为22种重复报道和5种新突变命名错误。原因包括数据库收录不全、因错误信息导致的后续错误报道、文献综述不足、短期内重复报道以及因重复序列引起的命名错误。 结论 错误报道的发生有多种原因，对错误信息的澄清，对于PJS的遗传咨询及相关研究非常重要和必要。

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

ObjectiveTo 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.MethodsA 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.ResultsIn 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.ConclusionError 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.