Format

Send to

Choose Destination
BMC Gastroenterol. 2015 Nov 25;15:166. doi: 10.1186/s12876-015-0397-9.

Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome.

Author information

1
Department of Gastroenterology, Children's Hospital of Fudan University, No. 399 WanYuan Road, Shanghai, 201102, China. zhihenghuang@126.com.
2
Department of Gastroenterology, Children's Hospital of Fudan University, No. 399 WanYuan Road, Shanghai, 201102, China. miaosj1980@163.com.
3
Department of Gastroenterology, Children's Hospital of Fudan University, No. 399 WanYuan Road, Shanghai, 201102, China. wanglin546974055@163.com.
4
The Molecular Genetic Diagnosis Center, Shanghai Key Lab of Birth Defects, Translational Medicine Research Center of Children's Development and Disease, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, 201102, China. 15121101375@163.com.
5
The Molecular Genetic Diagnosis Center, Shanghai Key Lab of Birth Defects, Translational Medicine Research Center of Children's Development and Disease, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, 201102, China. Bingbingwu2010@163.com.
6
Department of Gastroenterology, Children's Hospital of Fudan University, No. 399 WanYuan Road, Shanghai, 201102, China. jiesf6660@163.com.
7
Department of Gastroenterology, Children's Hospital of Fudan University, No. 399 WanYuan Road, Shanghai, 201102, China. yhuang815@163.com.

Abstract

BACKGROUND:

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease characterized by gastrointestinal hamartomatous polyps and mucocutaneous melanin spots. Germline mutation of the serine/threonine kinase 11 (STK11) gene are responsible for PJS. In this study, we investigated the clinical characteristics and molecular basis of the disease in Chinese children with PJS.

METHODS:

Thirteen children diagnosed with PJS in our hospital were enrolled in this study from 2011 to 2015, and their clinical data on polyp characteristics, intussusceptions events, family histories, etc. were described. Genomic DNA was extracted from whole-blood samples from each subject, and the entire coding sequence of the STK11 gene was amplified by polymerase chain reaction and analyzed by direct sequencing.

RESULTS:

The median age at the onset of symptoms was 2 years and 4 months. To date, these children have undergone 40 endoscopy screenings, 17 laparotomies and 9 intussusceptions. Polyps were found in the stomach, duodenum, small bowel, colon and rectum, with large polyps found in 7 children. Mutations were found in eleven children, including seven novel mutations (c.481het_dupA, c.943_944het_delCCinsG, c.397het_delG, c.862 + 1G > G/A, c.348_349het_delGT, and c.803_804het_delGGinsC and c.121_139de l19insTT) and four previously reported mutations (c.658C > C/T, c.890G > G/A, c.1062 C > C/G, and c.290 + 1G > G/A). One PJS patient did not have any STK11 mutations.

CONCLUSIONS:

The polyps caused significant clinical consequences in children with PJS, and mutations of the STK11 gene are generally the cause of PJS in Chinese children. This study expands the spectrum of known STK11 gene mutations.

PMID:
26607058
PMCID:
PMC4659168
DOI:
10.1186/s12876-015-0397-9
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for BioMed Central Icon for PubMed Central
Loading ...
Support Center