title: Findings from the Peutz-Jeghers syndrome registry of uruguay.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Gastroenterology, Pasteur Hospital, Ministry of Public Health, Montevideo, Uruguay.
authors.forename: Asadur
authors.initials: A
authors.lastname: Tchekmedyian
authors.forename: Christopher I
authors.initials: CI
authors.lastname: Amos
authors.forename: Sherri J
authors.initials: SJ
authors.lastname: Bale
authors.forename: Dakai
authors.initials: D
authors.lastname: Zhu
authors.forename: Stefan
authors.initials: S
authors.lastname: Arold
authors.forename: Joaquin
authors.initials: J
authors.lastname: Berrueta
authors.forename: Natalie
authors.initials: N
authors.lastname: Nabon
authors.forename: Thomas
authors.initials: T
authors.lastname: McGarrity
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010580:Peutz-Jeghers Syndrome / Q000453:epidemiology* / Q000235:genetics / Q000503:physiopathology / Q000601:surgery; D014583:Uruguay / Q000453:epidemiology; D055815:Young Adult