Sotos syndrome

Eur J Hum Genet. 2007 Mar;15(3):264-71. doi: 10.1038/sj.ejhg.5201686. Epub 2006 Sep 13.


Sotos syndrome is an autosomal dominant condition characterised by a distinctive facial appearance, learning disability and overgrowth resulting in tall stature and macrocephaly. In 2002, Sotos syndrome was shown to be caused by mutations and deletions of NSD1, which encodes a histone methyltransferase implicated in chromatin regulation. More recently, the NSD1 mutational spectrum has been defined, the phenotype of Sotos syndrome clarified and diagnostic and management guidelines developed.

MeSH terms

  • Body Height / genetics*
  • Facies*
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Learning Disabilities / genetics*
  • Learning Disabilities / pathology
  • Nuclear Proteins / genetics
  • Skull / abnormalities*
  • Syndrome


  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • NSD1 protein, human