title: [A young man with intestinal polyposis and epistaxis].
abstract: BACKGROUND
  Germline mutations in the SMAD4 gene lead to both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia (HHT).
  
  
  METHODS
  A 23-year-old man underwent colectomy with ileo-anal pouch anastomosis at the age of 12 due to colorectal juvenile polyposis. At follow-up, recurrent juvenile polyps in the pouch were removed. No gastric polyps were found. The family history was negative for intestinal polyposis. In addition, the patient had recurrent epistaxis. DNA testing revealed a pathogenic SMAD4 mutation: c.1558G>T; p.(Glu520*). Further examination confirmed suspected HHT.
  
  
  CONCLUSIONS
  DNA testing in patients with juvenile polyposis is important for subclassification of this syndrome with implications for the management of patients and family members.
authors.affiliation: VU medisch centrum, afd. Klinische genetica, Amsterdam.
authors.forename: Fred H
authors.initials: FH
authors.lastname: Menko
authors.forename: Maarten A J M
authors.initials: MA
authors.lastname: Jacobs
authors.forename: Johannes J
authors.initials: JJ
authors.lastname: Mager
authors.forename: Jan J
authors.initials: JJ
authors.lastname: Nicolaï
authors.forename: Arjen R
authors.initials: AR
authors.lastname: Mensenkamp
authors.forename: Cora M
authors.initials: CM
authors.lastname: Aalfs
mesh_terms: D003082:Colectomy; D004844:Epistaxis / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D044483:Intestinal Polyposis / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D007417:Intestinal Polyps / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics; D051901:Smad4 Protein / Q000235:genetics*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult
chemical_list: D051901:Smad4 Protein