• Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Shu-Han Sun, and Shou-Bin Ning.
• Department of Medical Genetics, Naval Medical University, Shanghai 200433, China Hebei North University, Zhangjiakou, Hebei Province, China Department of Gastroenterology, Airforce General Hospital of PLA, Beijing, China.
• Medicine (Baltimore). 2017 Dec 1; 96 (49): e8591e8591.

RationalePeutz-Jeghers syndrome (PJS) is a Mendelian autosomal dominant disease caused by mutations in the tumor suppressor gene, serine/threonine kinase 11 (STK11). The features of this syndrome include gastrointestinal (GI) hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer. Early onset of disease is often characterized by mucocutaneous pigmentation and intussusception due to GI polyps in childhood.Patient ConcernsA girl with a positive family history grew oral pigmentation at 1 and got intussusception by small bowel hamartomas at 5.DiagnosesShe was diagnosed with PJS based on oral pigmentation and a positive family history of PJS.InterventionsEnteroscopy was employed to treat the GI polyps. Sanger sequencing was used to investigate STK11 mutation in this family.OutcomesA large jejunal polyp together with other smaller ones was resected, and the girl recovered uneventfully. We discovered a heterozygous substitution in STK11, c.A527G in exon 4, in the girl and her father who was also a PJS patient, and the amine acid change was an aspartic acid-glycine substitution in codon 176. This mutation was not found in other healthy family members and 50 unrelated non-PJS controls, and it is not recorded in databases, which prove it a novel mutation. Evolutionary conservation analysis of amino acid residues showed this aspartic acid is a conserved one between species, and protein structure prediction by SWISS-MODEL indicated an obvious change in local structure. In addition, PolyPhen-2 score for this mutation is 1, which indicates it probably damaging.LessonsPJS can cause severe complication like intussusception in young children, and early screening for small bowel may be beneficial for these patients. The mutation of STK11 found in this girl is a novel one, which enlarges the spectrum of STK11. Our analysis supported it a causative one in PJS.

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