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Peutz‐Jeghers syndrome: Four novel inactivating germline mutations in the STK11 gene
Author(s) -
Kruse Roland,
Uhlhaas Siegfried,
Lamberti Christof,
Keller Klaus M.,
Jackisch Christian,
Steinhard Johannes,
Knöpfle Gisela,
Loff Steffan,
Back Walter,
Stolte Manfred,
Jungck Matthias,
Propping Peter,
Friedl Waltraut,
Jenne Dieter E.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:3<257::aid-humu15>3.0.co;2-a
Subject(s) - biology , exon , genetics , apolipoprotein b , gene , intron , ldl receptor , mutant , mutation , familial hypercholesterolemia , germline mutation , coding region , germline , microbiology and biotechnology , endocrinology , lipoprotein , cholesterol
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. © 1999 Wiley‐Liss, Inc.