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.
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Acknowledgements
We thank the many clinicians for providing materials of affected individuals, S. Sugano for providing cDNA clones and J.C. Murray for critical reading of the manuscript.
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Kurotaki, N., Imaizumi, K., Harada, N. et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 30, 365–366 (2002). https://doi.org/10.1038/ng863
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DOI: https://doi.org/10.1038/ng863
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