Tatton-Brown Katrina, Rahman Nazneen
Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.
Eur J Hum Genet. 2007 Mar;15(3):264-71. doi: 10.1038/sj.ejhg.5201686. Epub 2006 Sep 13.
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.
索托斯综合征是一种常染色体显性疾病，其特征为独特的面部外观、学习障碍以及生长过度导致身材高大和巨头畸形。2002年，研究表明索托斯综合征由NSD1的突变和缺失引起，NSD1编码一种参与染色质调控的组蛋白甲基转移酶。最近，已明确了NSD1的突变谱，阐明了索托斯综合征的表型，并制定了诊断和管理指南。
