A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients

BMC Medical Genetics

Research Article

Yulan Chen¹  Bo Jiang¹  Haoxuan Zheng¹  Baoping Wu¹  Jiman He¹  Zhiqing Wang¹ 

[1] Guangdong Provincial Key Laboratory of Gastroenterology, Department of Gastroenterology, Nanfang Hospital, Southern Medical University, 510515, Guangzhou, China;

关键词: Hamartomatous Polyp;    Catalytic Kinase Domain;    STK11 Gene;    Mucocutaneous Pigmentation;    STK11 Protein;   

DOI  :  10.1186/1471-2350-12-161

 received in 2011-11-01, accepted in 2011-12-14,  发布年份 2011

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 an increased risk of developing cancer.MethodsBlood samples were collected from two unrelated Chinese PJS families totaling 20 individuals (9 male and 11 females), including 6 PJS patients. The entire coding region of the STK11 gene was amplified by polymerase chain reaction and analyzed by direct sequencing.ResultsA novel mutation, c.904C > T, in exon 7 was identified in both families. A C > T substitution changed codon 302 from CAG (glutamine) to TAG (stop), truncating the STK11 protein, thus leading to the partial loss of the kinase domain and complete loss of the α-helix C-terminus. Furthermore, one PJS patient from each family was diagnosed with a visceral cancer, a colon cancer and a liver cancer respectively.ConclusionWe predict that this novel mutation, p.Q302X, is most likely responsible for development of the PJS phenotype and may even contribute to malignancy.

【 授权许可】

Unknown   
© Wang et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.