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.

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

Figure 1: NSD1 mutations in individuals with Sotos syndrome.

Accession codes

Accessions

GenBank/EMBL/DDBJ

References

  1. 1

    Imaizumi, K. et al. Am. J. Med. Genet . 107, 58–60 (2002).

  2. 2

    Huang, N. et al. EMBO J. 17, 3398–3412 (1998).

  3. 3

    Kurotaki, N. et al. Gene 279, 197–204 (2001).

  4. 4

    Jenuwein, T., Laible, G., Dorn, R. & Reuter, G. Cell. Mol. Life Sci. 54, 80–93 (1998).

  5. 5

    Stec, I., Nagl, S.B., van Ommen, G.-J.B. & den Dunnen, J.T. FEBS Lett . 473, 1–5 (2000).

  6. 6

    Aasland, R., Gibson, T.J. & Stewart, A.F. Trends Biochem. Sci. 20, 56–59 (1995).

  7. 7

    Opitz, J.M., Weaver, D.W. & Reynolds Jr, J.F. Am. J. Med. Genet. 79, 294–304 (1998).

  8. 8

    Bale, A.E., Drum, M.A., Parry, D.M. & Mulvihill, J.J. Am. J. Med. Genet. 20, 613–624 (1985).

  9. 9

    Boman, H. & Nilsson, D. Clin. Genet. 18, 421–427 (1980).

  10. 10

    Townes, P.L. J. Med. Genet . 13, 80 (1976).

Download references

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.

Author information

Correspondence to Naomichi Matsumoto.

Ethics declarations

Competing interests

The authors declare no competing financial interests.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

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

Download citation

Further reading