European Journal of Human Genetics (2007) 15, 264–271.
Katrina Tatton-Brown and Nazneen Rahman
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.
Dr. N. Rahman, Section of Cancer Genetics, Institute of Cancer Research, 15, Cotswold Road, Sutton, Surrey, SM2 5NG, UK.
Article available online.
(C) European Journal of Human Genetics.
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