Peutz-Jeghers syndrome: Four novel inactivating germline mutations in the STK11 gene

✍ Scribed by Roland Kruse; Siegfried Uhlhaas; Christof Lamberti; Klaus M. Keller; Christian Jackisch; Johannes Steinhard; Gisela Knöpfle; Steffan Loff; Walter Back; Manfred Stolte; Matthias Jungck; Peter Propping; Waltraut Friedl; Dieter E. Jenne

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 248 KB
• Volume: 13
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1999)13:3<257::aid-humu15>3.0.co;2-a

✦ Synopsis

The diagnosis of Peutz-Jeghers syndrome is based on the occurrence of hamartomatous gastrointestinal polyps and perioral pigment spots. In view of the development of hamartomatous polyps in several syndromes and the variability of pigment spots in Peutz-Jeghers patients, identification of affected individuals is difficult. Recently, germline mutations in the STK11 gene have been reported as a molecular cause of Peutz-Jeghers syndrome. We present four novel inactivating mutations identified by direct sequencing of all 9 exons of the STK11 gene in 4 patients suggestive of Peutz-Jeghers syndrome: three frameshift mutations (125-137del; 474-480del; 516-517insT) and one nonsense mutation (Q220X). Our data obtained in these patients and in those reported previously emphasize the diagnostic value of histological discrimination between different types of hamartomatous polyps and of molecular analysis, particularly in cases with no family history of the disease.