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Individuals with NSD1 Aberrations



We identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions encompassing NSD1 (referred to as “NSD1-positive individuals”), through analyses of 530 subjects with diverse phenotypes. Truncating NSD1 mutations occurred throughout the gene, but pathogenic missense mutations occurred only in functional domains (). Sotos syndrome was clinically diagnosed in 99 % of NSD1-positive individuals, independent of516P! 2 # 10 the molecular analyses, indicating that NSD1 aberrations are essentially specific to this condition. Furthermore, our data suggest that 93 % of patients who have been clinically diagnosed with Sotos syndrome have identifiable NSD1 abnormalities, of which 83 % are intragenic mutations and 10 % are 5q35 microdeletions. We reviewed the clinical phenotypes of 239 NSD1-positive individuals. Facial dysmorphism, learning disability, and childhood over-growth were present in 90 % of the individuals. However, both the height and head circumference of 10 % of the individuals were within the normal range, indicating that overgrowth is not obligatory for the diagnosis of Sotos syndrome. A broad spectrum of associated clinical features was also present, the occurrence of which was largely independent of genotype, since individuals with identical mutations had different phenotypes. We compared th

Year: 2016
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