BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. Germline mutation of a serine/threonine kinase 11(STK11) gene has been identified as a cause of PJS. In this study, we investigated the molecular basis of five Chinese PJS patients. METHODS: Blood samples were collected from five unrelated Chinese PJS patients and their parents. The entire coding region of the STK11 gene was amplified by polymerase chain reaction and analyzed by direct sequencing. RESULTS: Three different frameshift mutations (c.519insTGTG, c.792_793insT, and c.334_335insC), all of which would cause truncation of the gene product, were found in three patients. One missense mutation (p.Ser307Thr) and one 3bp deletion mutation (c.228-230del CGT) were identified in the remaining two patients. All of the five investigated patients carried de novo mutations. CONCLUSIONS: The results support that mutation of the LKB1 gene is a cause of PJS, and expand the spectrum of the STK11 gene mutations.
BACKGROUND:Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. Germline mutation of a serine/threonine kinase 11(STK11) gene has been identified as a cause of PJS. In this study, we investigated the molecular basis of five Chinese PJS patients. METHODS: Blood samples were collected from five unrelated Chinese PJS patients and their parents. The entire coding region of the STK11 gene was amplified by polymerase chain reaction and analyzed by direct sequencing. RESULTS: Three different frameshift mutations (c.519insTGTG, c.792_793insT, and c.334_335insC), all of which would cause truncation of the gene product, were found in three patients. One missense mutation (p.Ser307Thr) and one 3bp deletion mutation (c.228-230del CGT) were identified in the remaining two patients. All of the five investigated patients carried de novo mutations. CONCLUSIONS: The results support that mutation of the LKB1 gene is a cause of PJS, and expand the spectrum of the STK11 gene mutations.
Authors: Annette F Baas; Jeroen Kuipers; Nicole N van der Wel; Eduard Batlle; Henk K Koerten; Peter J Peters; Hans C Clevers Journal: Cell Date: 2004-02-06 Impact factor: 41.582
Authors: Wendy Lim; Sylviane Olschwang; Josbert J Keller; Anne Marie Westerman; Fred H Menko; Lisa A Boardman; Rodney J Scott; Jill Trimbath; Francis M Giardiello; Stephen B Gruber; Johan J P Gille; G Johan A Offerhaus; Felix W M de Rooij; J H Paul Wilson; Allan D Spigelman; Robin K S Phillips; Richard S Houlston Journal: Gastroenterology Date: 2004-06 Impact factor: 22.682
Authors: C I Amos; M B Keitheri-Cheteri; M Sabripour; C Wei; T J McGarrity; M F Seldin; L Nations; P M Lynch; H H Fidder; E Friedman; M L Frazier Journal: J Med Genet Date: 2004-05 Impact factor: 6.318
Authors: L A Boardman; S N Thibodeau; D J Schaid; N M Lindor; S K McDonnell; L J Burgart; D A Ahlquist; K C Podratz; M Pittelkow; L C Hartmann Journal: Ann Intern Med Date: 1998-06-01 Impact factor: 25.391
Authors: Heidi Salloch; Anke Reinacher-Schick; Karsten Schulmann; Christian Pox; Jörg Willert; Andrea Tannapfel; Stefan Heringlake; Timm O Goecke; Stefan Aretz; Susanne Stemmler; Wolff Schmiegel Journal: Int J Colorectal Dis Date: 2009-09-02 Impact factor: 2.571