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10 October 2016 : Clinical Research  

Genetic Screening and Analysis of LKB1 Gene in Chinese Patients with Peutz-Jeghers Syndrome

Chunyan ChenBDF, Xiaomei ZhangABDEG, Deqiang WangBD, Fangyu WangBD, Jian PanAD, Zhenkai WangBD, Chang LiuBDE, Lin WuBE, Heng LuBDF, Nan LiBD, Juan WeiABD, Hui ShiAD, Haijun WanBDF, Ming ZhuBDF, Senqing ChenBDE, Yun ZhouBDF, Xin ZhouBCD, Liu YangBCD, Jiong LiuABCEG

DOI: 10.12659/MSM.897498

Med Sci Monit 2016; 22:3628-3640

Abstract

BACKGROUND: Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease. It severely decreases patient quality of life and leads elevated cancer risk. Germline mutation of LKB1 is the leading cause of familial PJS.

MATERIAL AND METHODS: To characterize the germline mutation of LKB1 gene in Chinese familial and sporadic PJS patients, 14 PJS families, 5 sporadic PJS patients, and 250 healthy adults were collected and genomic DNAs of peripheral blood were extracted. Mutation screenings of LKB1 were performed using MLPA (multiplex ligation-dependent probe amplification), PCR, direct sequencing, and PCR-DHPLC (denaturing high-performance liquid chromatography).

RESULTS: A total of 12 kinds of germline mutations were found in 9 familial PJS patients, most of which were point mutations (7/12); 4 large deletions of LKB1 were also observed. Of the 12 mutations, 7 were pathogenic (2 were de novo), 4 were just polymorphisms, and 1 was indefinitely pathogenic. No pathogenic mutation in exons of the LKB1 gene was detected in the 5 sporadic PJS patients. The mutation detection rate for the LKB1 gene was 85.7% in our Chinese familial PJS and 63.2% in all Chinese PJS patients. Eight familial PJS patients were identified with pathogenic germline mutations in 14 unrelated families (57.1%). Further methylation detection and analysis showed promoter methylation in carcinomatous polyps.

CONCLUSIONS: LKB1 gene germline mutation with pathogenic effect is a common cause of familial PJS in Chinese patients; however, it is not the only molecular pathogen of PJS. Methylation in the LKB1 gene promoter region may cause carcinomatous change in intestinal polyps.

Keywords: Asian Continental Ancestry Group - genetics, China, Exons, genetic testing, Germ-Line Mutation, Methylation, Mutation, Peutz-Jeghers Syndrome - genetics, Protein-Serine-Threonine Kinases - metabolism, Quality of Life, Sequence Deletion

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Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750