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

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 analyze

SUBMITTER: Huang Z 

PROVIDER: S-EPMC4659168 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature