Background: Metformin is an insulin sensitizing drug, which is co-administered with Clominophene citrate or gonadotropins in most cases of polycystic ovary syndrome (PCOS), to improve ovulation. STK11 gene is necessary for action of metformin. Therefore the study of STK11 polymorphisms is important as pharmacogenetics aspects of metformin. The aim of our study was to investigate polymorphism of...

Frequent losses of chromosome 19p have recently been observed in sporadic lung adenocarcinomas, targeting the location of a critical tumor suppressor gene. Here we performed fine mapping of the short arm of chromosome 19 and found that the LKB1/STK11 gene mapped in the minimal-deleted region. Because germ-line mutations at LKB1/STK11 result in the Peutz-Jeghers syndrome and an increased risk of...

Clinical features of Peutz-Jeghers syndrome (PJS), an autosomal dominant disorder, include clusters of melanotic spots on the lips and limbs, polyposis of the gastrointestinal (GI) tract, and propensity to develop neoplasms of the GI tract, ovaries, testes, and other sites. We report twin sisters with PJS who were found to be homozygous, based on analyses of 9 DNA markers containing short tande...

BACKGROUND Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant cancer predisposition syndrome characterised by oro-facial pigmentation and hamartomatous polyposis of the gastrointestinal tract. A causal germline mutation in STK11 can be identified in 30% to 80% of PJS patients. METHODS Here we report the comprehensive mutational analysis of STK11 in 38 PJS probands applying conventiona...

Gestational diabetes mellitus (GDM) is defined as carbohydrate intolerance of variable severity that develops during pregnancy. Recent studies indicate that GDM onset is rapid, and that women with GDM will develop other metabolic disorders such as obesity, type 2 diabetes, and cardiovascular disease in their future. Serine/threonine kinase 11 (STK11) is engaged in the insulin signaling pathway ...

INTRODUCTION Germline mutations of the STK11/LKB1 tumour suppressor gene (19p13.3) are responsible for Peutz-Jeghers syndrome (PJS), a rare genetic disorder, which is dominantly inherited. In addition to the typical hamartomatous gastrointestinal polyps and perioral pigmented lesions, PJS is also associated with the development of tumours in various sites. No specific follow up has yet been eva...

P eutz-Jeghers syndrome (PJS; OMIM #175200) is an autosomal dominant disorder characterised by mucocutaneous melanin pigmentation, gastrointestinal hamartomatous polyposis, and an increased risk for the development of various neoplasms. 2 Malignancies occur both in the gastrointestinal tract and in extraintestinal sites such as the pancreas, the breast, and reproductive organs. The estimated re...

P eutz-Jeghers syndrome (PJS; OMIM #175200) is an autosomal dominant disorder characterised by mucocutaneous melanin pigmentation, gastrointestinal hamartomatous polyposis, and an increased risk for the development of various neoplasms. 2 Malignancies occur both in the gastrointestinal tract and in extraintestinal sites such as the pancreas, the breast, and reproductive organs. The estimated re...

We identified a family in which five siblings were diagnosed with multiple sclerosis (MS) or clinically isolated syndrome. Several women in the maternal lineage have comorbidities typically associated with Peutz Jeghers Syndrome, a rare autosomal-dominant disease caused by mutations in the serine-threonine-kinase 11 (STK11) gene, which encodes liver kinase B1. Sequence analysis of DNA from one ...