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Haploinsufficiency of NSD1 causes Sotos syndrome

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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Figure 1: NSD1 mutations in individuals with 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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Correspondence to Naomichi Matsumoto.

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The authors declare no competing financial interests.

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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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