One novel deletion and one splicing mutation of the LKB1 gene in two Chinese patients with Peutz-Jeghers syndrome

• Published in: DNA and cell biology Vol. 31; no. 10; p. 1535
• Main Authors: Chen, Chunyan, Zhang, Xiaomei, Wang, Fangyu, Liu, Chang, Lu, Heng, Wan, Haijun, Wei, Juan, Liu, Jiong
• Format: Journal Article
• Language: English
• Published: United States 01.10.2012
• Subjects: Adolescent; Adult; Asian Continental Ancestry Group - genetics; Base Sequence; Child, Preschool; Exons; Female; Humans; Introns; Male; Molecular Sequence Data; Mutation; Peutz-Jeghers Syndrome - genetics; Peutz-Jeghers Syndrome - pathology; Protein-Serine-Threonine Kinases - genetics; RNA Splicing - genetics; Sequence Analysis, DNA; Young Adult

Peutz-Jeghers syndrome (PJS) is an uncommon autosomal dominant inherited disease, characterized by the occurrence of gastrointestinal hamartomatous polyps and pigmentation of the lips, buccal mucosa, and digits. Patients with PJS have a significant risk for developing tumors in multiple organs. Germ...