The pattern of STK11 gene mutation and its phenotypical manifestation in patient with hamartomas polyposis

Abstract

The clinical examination, genealogical and molecular genetic analysis of the probands and the risk group of three families with Peutz–Jeghers syndrome were carried out. The mutations of STK11 gene in exons 1, 2, 3 and 4, that lead to the formation of truncated protein and loss of its kinase activity, were confirmed in probands and in two persons of the risk group. The medium age of the disease manifestation of the colon symptoms was 25 (16–34) years. The typical features of the disease were the conglo­merate of hamartomas and intestinal invaginations. Polyps were found in different part of the digestive tract: in stomach, small intestine, gall bladder and large bowel. The disturbances of reproduction functions and congenital abnormalities were observed in probands with hamartomas syndrome. Two relatives of the probands with Peutz–Jeghers syndrome had cancer of small intestine and large bowel in young age. The melanin pigmentation was a significant extraintestinal marker of this syndrome. The patients with Peutz-Jeghers syndrome need regular endoscopic investigation with obligatory observation of small intestine, the ultrasonic examination of internals organs, mammography, the detections of STK11 gene mutations for early identification of the oncological diseases and genetic consultation for detection of the risk group.

Keywords

• genealogical analysis
• peutz–jeghers syndrome
• mutations of stk11 gene
• colon cancer