A novel pathogenic splice site variation in STK11 gene results in Peutz-Jeghers syndrome.

ABSTRACT:

Background

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease resulting in multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of various types of cancer, and is caused by variations in the serine/threonine protein kinase STK11 (LKB1).

Methods

STK11 gene variations were identified by analyzing STK11 cDNA and genomic DNA. Minigenes carrying the wild-type and mutant sequences were subjected to in vitro splicing assay to dissect the features of these mutations. The different distribution of wild-type and mutant protein in cells were tested by Immunofluorescence assays and the functional analysis of the variation were performed using Western blot.

Results

A novel heterozygous splice-acceptor site var

SUBMITTER: Zhao N 

PROVIDER: S-EPMC8404226 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature