Sotos syndrome.

Abstract

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.

• Authors: Katrina Tatton-Brown, Nazneen Rahman
• Journal: European journal of human genetics : EJHG (Eur J Hum Genet) Vol. 15 Issue 3 Pg. 264-71 (Mar 2007) ISSN: 1018-4813 [Print] England
• PMID: 16969376 (Publication Type: Journal Article)

Chemical References

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

Topics

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