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Haploinsufficiency of NSD1 causes Sotos syndrome
Naohiro Kurotaki1, Kiyoshi Imaizumi, Naoki Harada
1Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan.
Nature Genetics
|March 16, 2002
Abstract:
We isolated NSD1 from the 5q35 breakpoint in an individual with Sotos syndrome harboring a chromosomal translocation. We identified 1 nonsense, 3 frameshift and 20 submicroscopic deletion mutations of NSD1 among 42 individuals with sporadic cases of Sotos syndrome. The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome.