Sotos syndrome.
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.
Tatton-Brown
Katrina
K
Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.
Rahman
Nazneen
N
D001827:Body Height / Q000235:genetics*; D019066:Facies; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D007859:Learning Disabilities / Q000235:genetics* / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human