LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome.

ABSTRACT:

Background

LKB1/STK11 germline mutations cause Peutz-Jeghers syndrome (PJS). The existence of a second PJS locus is controversial, the evidence in its favour being families unlinked to LKB1 and the low frequency of LKB1 mutations found using conventional methods in several studies. Exonic and whole gene deletion or duplication events cannot be detected by routine mutation screening methods.

Objective

To seek evidence for LKB1 germline deletions or duplications by screening patients meeting clinical criteria for PJS but without detected mutations on conventional screening.

Methods

From an original cohort of 76 patients, 48 were found to have a germline mutation by direct sequencing; the remaining 28 were examined using multiplex ligation dependent probe amplification (

SUBMITTER: Volikos E 

PROVIDER: S-EPMC2564523 | biostudies-literature | 2006 May

REPOSITORIES: biostudies-literature