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Published on: July 21, 2018
[Mutation screening of LKB1 gene in familial Peutz-Jeghers syndrome patients]
Chun-yan Chen1, Xiao-mei Zhang, Fang-yu Wang
1Department of Gastroenterology and Hepatology, Nanjing University/Nanjing General Hospital of Nanjing Military Command, Nanjing, Jiangsu, Peoples's Republic of China.
Insights
Germline mutations in the LKB1 gene are common in Chinese familial Peutz-Jeghers syndrome (PJS) patients, with most identified mutations being point mutations. This study screened for LKB1 gene mutations and analyzed clinical features in these patients.
Area of Science:
- Genetics
- Molecular Biology
- Oncology
Background:
- Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder.
- PJS is characterized by hamartomatous polyps and mucocutaneous pigmentation.
- LKB1 gene mutations are a known cause of PJS.
Purpose of the Study:
- To identify LKB1 gene mutations in Chinese familial PJS patients.
- To correlate identified mutations with clinical manifestations.
- To determine the frequency of LKB1 mutations in this population.
Main Methods:
- Genomic DNA extraction from peripheral blood of 11 PJS families.
- Mutation screening using PCR and direct sequencing.
- Verification of mutations in 250 healthy controls using PCR-denaturing high-performance liquid chromatography.
Main Results:
- Nine germline mutations were identified in 8 PJS patients.
- Mutations included 7 point mutations, 1 deletion, and 1 insertion.
- Four mutations were pathogenic (2 de novo), 4 were polymorphisms, and 1 was uncertain.
Conclusions:
- LKB1 gene mutations are a frequent cause of familial PJS in Chinese individuals.
- Point mutations are the predominant type of LKB1 mutation observed.
- Genetic screening of LKB1 is crucial for diagnosing familial PJS.
Objective:
To screen for potential mutations of LKB1 gene in Chinese familial Peutz-Jeghers syndrome (PJS) patients and analyze their clinical manifestations.
Methods:
Eleven PJS families were collected and genomic DNA of peripheral blood was extracted. Typically mucosal pigmentation and hamartomatous polyps were present in all 11 probands. Mutation screening of the probands were carried out by PCR and direct sequencing. Two hundred and fifty healthy adults were enrolled as normal controls, for whom genomic DNA of peripheral blood was also extracted. PCR-denaturing high performance liquid chromatography was carried out to verify the mutation identified in the patients.
Results:
Nine germline mutations were identified in eight PJS patients, which included 7 point mutations, 1 deletion and 1 insertion. Among these, 4 were considered to be pathogenic, of which 2 were de novel, 4 were considered to be polymorphism, and 1 was uncertain.
Conclusion:
LKB1 gene mutations with pathogenic effect are a common cause of familial PJS in Chinese patients. Most mutations are point mutations.
