title: Three novel mutations in greek sotos patients with rare clinical manifestations.
abstract: BACKGROUND
  Sotos syndrome is an autosomal dominant disease characterized by tall stature, advanced bone age, typical morphological abnormalities of the face and developmental delay. It is caused by mutations in the NSD1 gene located on chromosome 5. NSD1 mutations are detected in the majority of the Sotos patients, and include intragenic NSD1 mutations and microdeletions in the 5q35 region. Cardiovascular and urogenital symptoms are more frequent in the microdeletion group.
  
  
  METHODS
  Mutation analysis was performed in 4 patients with Sotos syndrome with typical phenotypic characteristics.
  
  
  RESULTS
  In each of the 4 patients a NSD1 mutation was found (2 frame shifts, 1 nonsense and 1 missense mutation). Two of our patients presented dysplastic kidneys with cysts and psychosis, respectively.
  
  
  CONCLUSIONS
  We describe 4 Greek patients with Sotos syndrome. Apart from the typical phenotypic characteristics, 2 of our patients presented rare clinical manifestations such as dysplastic kidneys and psychosis. The 3 detected mutations are novel.
authors.affiliation: Medical Genetics, University of Athens Medical School, Aghia Sophia Children's Hospital, Goudi, Athens, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Leventopoulos
authors.forename: Sophia
authors.initials: S
authors.lastname: Kitsiou-Tzeli
authors.forename: Stavroula
authors.initials: S
authors.lastname: Psoni
authors.forename: Ariadni
authors.initials: A
authors.lastname: Mavrou
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Patrick
authors.initials: P
authors.lastname: Willems
authors.forename: Helen
authors.initials: H
authors.lastname: Fryssira
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D019066:Facies; D006115:Greece; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human