A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients.

ABSTRACT:

Background

Peutz-Jeghers syndrome (PJS) is a rare multi-organ cancer syndrome and understanding its genetic basis may help comprehend the molecular mechanism of familial cancer. A number of germ line mutations in the STK11 gene, encoding a serine threonine kinase have been reported in these patients. However, STK11 mutations do not explain all PJS cases. An earlier study reported absence of STK11 mutations in two Indian families and suggested another potential locus on 19q13.4 in one of them.

Methods

We sequenced the promoter and the coding region including the splice-site junctions of the STK11 gene in 16 affected members from ten well-characterized Indian PJS families with a positive family history.

Results

We did not observe any of the reported mutations in the STK

SUBMITTER: Thakur N 

PROVIDER: S-EPMC1609100 | biostudies-literature | 2006 Sep

REPOSITORIES: biostudies-literature