High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients.

ABSTRACT:

Background

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease characterized by gastrointestinal hamartomatous polyposis and mucocutaneous pigmentation. The genetic predisposition for PJS has been shown to be associated with germline mutations in the STK11/LKB1 tumor suppressor gene. The aim of the present study was to characterize Hungarian PJS patients with respect to germline mutation in STK11/LKB1 and their association to disease phenotype.

Methods

Mutation screening of 21 patients from 13 PJS families were performed using direct DNA sequencing and multiplex ligation-dependent probe amplification (MLPA). Comparative semi-quantitative sequencing was applied to investigate the mRNA-level effects of nonsense and splice-affecting mutations.

Resul

SUBMITTER: Papp J 

PROVIDER: S-EPMC3012662 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature