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The <jats:italic>NSD1<\/jats:italic> gene was recently found to be responsible for Sotos syndrome, and more than 150 patients with <jats:italic>NSD1<\/jats:italic> alterations have been identified. A significant ethnic difference is found in the prevalence of different types of mutation, with a high percentage of microdeletions identified in Japanese Sotos syndrome patients and with intragenic mutations in most non\u2010Japense patients. <jats:italic>NSD1<\/jats:italic> aberrations are rather specific for Sotos syndrome, but have also been detected in patients lacking one or more major criteria of the disorder, namely overgrowth, macrocephaly, and advanced bone age. Thus, new diagnostic criteria should be considered. Studies have reported different frequencies of mutations versus non\u2010mutations in Sotos syndrome, thus indicating allelic or locus hetereogeneity. Although some authors have suggested genotype\/phenotype correlations, further studies are needed. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30061","type":"journal-article","created":{"date-parts":[[2005,7,11]],"date-time":"2005-07-11T22:46:35Z","timestamp":1121121995000},"page":"24-31","source":"Crossref","is-referenced-by-count":45,"title":["<i>NSD1<\/i> mutations in Sotos 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