Kruse R, Uhlhaas S, Lamberti C, Keller K M, Jackisch C, Steinhard J, Knöpfle G, Loff S, Back W, Stolte M, Jungck M, Propping P, Friedl W, Jenne D E
Institute of Human Genetics, University of Bonn, Germany.
Hum Mutat. 1999;13(3):257-8. doi: 10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU15>3.0.CO;2-A.
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.
黑斑息肉综合征的诊断基于错构瘤性胃肠道息肉和口周色素斑的出现。鉴于几种综合征中错构瘤性息肉的发生情况以及黑斑息肉综合征患者色素斑的变异性，识别受影响个体很困难。最近，已报道STK11基因的种系突变是黑斑息肉综合征的分子病因。我们报告了通过对4例疑似黑斑息肉综合征患者的STK11基因的所有9个外显子进行直接测序鉴定出的4个新的失活突变：3个移码突变（125 - 137del；474 - 480del；516 - 517insT）和1个无义突变（Q220X）。我们在这些患者以及先前报道的患者中获得的数据强调了不同类型错构瘤性息肉的组织学鉴别和分子分析的诊断价值，特别是在无该病家族史的病例中。
