Sotos Syndrome

Publication:
European Journal of Human Genetics (2007) 15, 264–271.

Authors:
Katrina Tatton-Brown and Nazneen Rahman

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.

Correspondence:
Dr. N. Rahman, Section of Cancer Genetics, Institute of Cancer Research, 15, Cotswold Road, Sutton, Surrey, SM2 5NG, UK.
E-mail: nazneen.rahman@icr.ac.uk

Article available online.

(C) European Journal of Human Genetics.

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