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

Journal article

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 ...

Expand abstract

Authors: Volikos, E; Robinson, J; Aittomäki, K; Mecklin, J; Järvinen, H

• Journal: Journal of medical genetics
• Volume: 43
• Issue: 5
• Pages: e18
• Publication date: 2006-05-01
• DOI: 10.1136/jmg.2005.039875
• EISSN: 1468-6244
• ISSN: 0022-2593
• Language: English
• Keywords: Humans; Peutz-Jeghers Syndrome; Protein-Serine-Threonine Kinases; Cohort Studies; DNA Mutational Analysis; Germ-Line Mutation; Exons; Gene Deletion