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Sotos syndrome Tatton-Brown K; Rahman NEur J Hum Genet 2007[Mar]; 15 (3): 264-71Sotos 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.|*Facies[MESH]|Body Height/*genetics[MESH]|Histone Methyltransferases[MESH]|Histone-Lysine N-Methyltransferase[MESH]|Humans[MESH]|Intracellular Signaling Peptides and Proteins/genetics[MESH]|Learning Disabilities/*genetics/pathology[MESH]|Nuclear Proteins/genetics[MESH]|Skull/*abnormalities[MESH]|Syndrome[MESH] |
