Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient

BMC Medical Genetics

Case Report

Xiao-Wei Jin¹  Shou-Bin Ning¹  Jing Li¹  Bai-Rong Li¹  Zi-Ye Zhao²  Fu Yang²  Shu-Han Sun²  Yu-Liang Jiang³ 

[1] Department of Gastroenterology, Airforce General Hospital of PLA, 30 Fucheng Rd, 100142, Beijing, China;Department of Medical Genetics, Naval Medical University, 800 Xiangyin Rd, 200433, Shanghai, China;Hebei North University, 11 South Zuanshi Rd., 075061, Zhangjiakou, Hebei Province, China;Department of Gastroenterology, Airforce General Hospital of PLA, 30 Fucheng Rd, 100142, Beijing, China;

关键词: Peutz-Jeghers syndrome;    STK11;    De-novo mutation;    Hamartoma;    Polyposis;   

DOI  :  10.1186/s12881-017-0471-y

 received in 2017-08-17, accepted in 2017-09-27,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundPeutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer.Case presentationWe reported an isolated PJS patient who died of colon cancer, whose blood sample was collected together with all the available family members’. The entire coding region of the STK11 gene was amplified by PCR and analyzed by Sanger sequencing, through which, a novel mutation, c.962_963delCC in exon 8 was identified in this patient. This mutation causes a frameshift mutation and a premature termination at codon 358. Protein structure prediction by Swiss-Model indicated a dramatic change and partial loss of the C-terminal domain. We did not observe this mutation in both parents of the proband. Therefore, it is considered a novel de-novo mutation. Furthermore, the mutation was not found in 50 unrelated healthy people.ConclusionsThe novel mutation we reported here had not been recorded in databases or literature, and the patient who possessed it suffered from PJS and colon cancer. So our results enlarge the spectrum of STK11 variants in PJS patients. This mutation is most likely responsible for development of the PJS phenotype, especially the cancer occurrence.

【 授权许可】

CC BY   
© The Author(s). 2017