Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome

作     者：Guo-Li Gu Zhi Zhang Yu-Hui Zhang Peng-Fei Yu Zhi-Wei Dong Hai-Rui Yang Ying Yuan 

作者机构：Department of General SurgeryAir Force Medical CenterChinese People's Liberation ArmyBeijing 100142China Graduate SchoolHebei North UniversityZhangjiakou 075000Hebei ProvinceChina Department of Medical OncologyCancer InstituteThe Second Affiliated HospitalZhejiang University School of MedicineHangzhou 310009Zhejiang ProvinceChina 

出 版 物：《World Journal of Gastroenterology》 (世界胃肠病学杂志（英文版）)

年 卷 期：2021年第27卷第39期

页      面：6631-6646页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

基　　金：by Beijing Capital Medical Development Research Fund No.Shoufa2020-2-5122 

主　　题：Peutz-Jeghers syndrome Genotype Phenotype STK11 Mutation 

摘      要：Different types of pathogenic mutations may produce different clinical phenotypes,but a correlation between Peutz-Jeghers syndrome(PJS)genotype and clinical phenotype has not been *** all patients with PJS have detectable mutations of the STK11/LKB1 gene,what is the genetic basis of clinical phenotypic heterogeneity of PJS?Do PJS cases without STK11/LKB1 mutations have other pathogenic genes?Those are clinical problems that perplex *** The aim was to investigate the specific gene mutation of PJS,and the correlation between the genotype and clinical phenotype of *** A total of 24 patients with PJS admitted to the Air Force Medical Center,PLA(formerly the Air Force General Hospital,PLA)from November 1994 to January 2020 were randomly selected for inclusion in the *** hundred thirty-nine common hereditary tumor-related genes including STK11/LKB1 were screened and analyzed for pathogenic germline mutations by high-throughput nextgeneration sequencing(NGS).The mutation status of the genes and their relationship with clinical phenotypes of PJS were *** Twenty of the 24 PJS patients in this group(83.3%)had STK11/LKB1 gene mutations,90%of which were pathogenic mutations,and ten had new mutation *** mutations in exon 7 of STK11/LKB1 gene were significantly lower than in other *** mutations are more common in exons 1 and 4 of STK11/LKB1,and their pathogenicity was significantly higher than that of missense *** also found SLX4 gene mutations in PJS *** PJS has a relatively complicated genetic *** in the sites responsible for coding functional proteins in exon 1 and exon 4 of STK11/LKB1 may be one of the main causes of *** of the SLX4 gene may be a cause of genetic heterogeneity in PJS.