A novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers syndrome

BMC Gastroenterology

Research

Fang Jiang¹  Zhen Yu¹  Xiao Wang¹  Lili Liu¹  Yimin Ji¹  Lin Liu² 

[1] Department of Pediatrics, Qilu Hospital, Shandong University, 107 Wen Hua Xi Road, 250012, Jinan, Shandong, People’s Republic of China;Shandong Provincial Maternal and Child Health Care Hospital, Shandong University, 238 Jing Shi Dong Road, 250012, Jinan, Shandong, People’s Republic of China;

关键词: Mutation;    Peutz-Jeghers syndrome;    STK11;    Gastrointestinal polyps;   

DOI  :  10.1186/s12876-022-02617-y

 received in 2022-08-26, accepted in 2022-12-13,  发布年份 2022

来源: Springer

【 摘 要 】

BackgroundPeutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by mutations in the Serine-Threonine Kinase 11 (STK11) gene. This study aimed to diagnose a Chinese pedigree with PJS and to expand the spectrum of STK11 variants.MethodsWe performed an inductive analysis of clinical features, gastrointestinal endoscopy, radiologic imaging, and pathological findings in a Chinese family with PJS. Whole-exome sequencing (WES), Sanger sequencing, and STK11 protein 3D structure prediction were performed for establishing a molecular diagnosis.ResultsThe proband, her mother, and grandfather presented with pigmentation spots on lips, oral mucosa, and fingers. Her mother and grandfather also had pigmentation spots on face and feet, while her brother had pigmentation spots only on the lower lip. On endoscopy, polyps were discovered in the proband, her mother, and grandfather. A novel heterozygous mutation (c.521A > C) in exon 4 of STK11 was identified in all four patients, leading to a change from histidine to proline in amino acid 174. The variable site p.H174 was highly conserved in different species on multiple sequence alignment analysis.ConclusionsWe diagnosed a Chinese pedigree with PJS based on clinical features, gastrointestinal endoscopy, and genetic testing results. Our results expanded the spectrum of STK11 variants, which will be helpful for genetic counseling.

【 授权许可】

CC BY   
© The Author(s) 2022

【 图 表 】

Fig. 1

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