Clinical and Genetic Analyses of 38 Chinese Patients with Peutz-Jeghers Syndrome.

ABSTRACT:

Background

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by a germline mutation in the STK11 gene. It is characterized by mucocutaneous pigmentation, gastrointestinal hamartomatous polyps, and cancer predisposition.

Aims

We aimed to summarize the main clinical and genetic features of Chinese PJS patients and assessed the genotype-phenotype correlations.

Methods

Thirty-eight patients clinically diagnosed with Peutz-Jeghers syndrome were included in this study from 2016 to 2019. Combined direct sequencing and multiplex ligation-dependent probe amplification tests were used to detect germline heterogeneous STK11 mutations. RNA sequencing was performed in polyps of PJS patients and control groups to evaluate the differenc

SUBMITTER: Wu BD 

PROVIDER: S-EPMC7240661 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature