Amos, Christopher I.
Bale, Sherri J.
Arold, Stefan T.
KAUST DepartmentBiological and Environmental Sciences and Engineering (BESE) Division
Computational Bioscience Research Center (CBRC)
Structural Biology and Engineering
Permanent link to this recordhttp://hdl.handle.net/10754/325328
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AbstractBackground: Peutz-Jeghers syndrome (PJS) is characterized by intestinal polyposis, mucocutaneous pigmentation and an increased cancer risk, usually caused by mutations of the STK11 gene. This study collected epidemiological, clinical and genetic data from all Uruguayan PJS patients. Methods: Clinical data were obtained from public and private medical centers and updated annually. Sequencing of the STK11 gene in one member of each family was performed. Results and discussion: 25 cases in 11 unrelated families were registered (15 males, 10 females). The average age of diagnosis and death was 18 and 41 years respectively. All patients had characteristic PJS pigmentation and gastrointestinal polyps. 72% required urgent surgery due to intestinal obstruction. 3 families had multiple cases of seizure disorder, representing 20% of cases. 28% developed cancer and two patients had more than one cancer. An STK11 mutation was found in 8 of the 9 families analyzed. A unique M136K missense mutation was noted in one family. Comparing annual live births and PJS birth records from 1970 to 2009 yielded an incidence of 1 in 155,000. Conclusion: The Uruguayan Registry for Peutz-Jeghers patients showed a high chance of emergent surgery, epilepsy, cancer and shortened life expectancy. The M136K missense mutation is a newly reported STK 11 mutation. © 2013 Tchekmedyian et al.
CitationTchekmedyian A, Amos CI, Bale SJ, Zhu D, Arold S, et al. (2013) Findings from the Peutz-Jeghers Syndrome Registry of Uruguay. PLoS ONE 8: e79639. doi:10.1371/journal.pone.0079639.
PublisherPublic Library of Science (PLoS)
PubMed Central IDPMC3834183
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Except where otherwise noted, this item's license is described as This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
- Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.
- Authors: Yoon KA, Ku JL, Choi HS, Heo SC, Jeong SY, Park YJ, Kim NK, Kim JC, Jung PM, Park JG
- Issue date: 2000 Apr
- Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.
- Authors: Westerman AM, Entius MM, Boor PP, Koole R, de Baar E, Offerhaus GJ, Lubinski J, Lindhout D, Halley DJ, de Rooij FW, Wilson JH
- Issue date: 1999
- Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.
- Authors: Resta N, Pierannunzio D, Lenato GM, Stella A, Capocaccia R, Bagnulo R, Lastella P, Susca FC, Bozzao C, Loconte DC, Sabbà C, Urso E, Sala P, Fornasarig M, Grammatico P, Piepoli A, Host C, Turchetti D, Viel A, Memo L, Giunti L, Stigliano V, Varesco L, Bertario L, Genuardi M, Lucci Cordisco E, Tibiletti MG, Di Gregorio C, Andriulli A, Ponz de Leon M, AIFEG.
- Issue date: 2013 Jul
- A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients.
- Authors: Thakur N, Reddy DN, Rao GV, Mohankrishna P, Singh L, Chandak GR
- Issue date: 2006 Sep 30
- Mutations in STK11 gene in Czech Peutz-Jeghers patients.
- Authors: Vasovcák P, Puchmajerová A, Roubalík J, Krepelová A
- Issue date: 2009 Jul 19
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