Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • News & Views
  • Published:

Digenic inheritance and Mendelian disease

Powerful genomic technologies, such as exome sequencing, are providing new insights into the genetics underlying Mendelian traits. A new study identifies a role for digenic inheritance and an epigenetic modifier in facioscapulohumeral muscular dystrophy type 2.

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Rent or buy this article

Prices vary by article type

from$1.95

to$39.95

Prices may be subject to local taxes which are calculated during checkout

Figure 1: Digenic inheritance and genetic interaction in FSHD2.

References

  1. Lemmers, R.J.L.F. et al. Nat. Genet. 44, 1370–1374 (2012).

    Article  CAS  Google Scholar 

  2. van der Maarel, S.M., Tawil, R. & Tapscott, S.J. Trends Mol. Med. 17, 252–258 (2011).

    Article  CAS  Google Scholar 

  3. Blewitt, M.E. et al. Proc. Natl. Acad. Sci. USA 102, 7629–7634 (2005).

    Article  CAS  Google Scholar 

  4. Kajiwara, K., Berson, E.L. & Dryja, T.P. Science 264, 1604–1608 (1994).

    Article  CAS  Google Scholar 

  5. Loewen, C.J., Moritz, O.L. & Molday, R.S. J. Biol. Chem. 276, 22388–22396 (2001).

    Article  CAS  Google Scholar 

  6. Katsanis, N. et al. Science 293, 2256–2259 (2001).

    Article  CAS  Google Scholar 

  7. Davis, E.E. et al. Nat. Genet. 43, 189–196 (2011).

    Article  CAS  Google Scholar 

  8. Potocki, L. et al. Am. J. Hum. Genet. 64, 471–478 (1999).

    Article  CAS  Google Scholar 

  9. El-Hattab, A.W. et al. Genet. Med. 12, 573–586 (2010).

    Article  CAS  Google Scholar 

  10. Girirajan, S. et al. Nat. Genet. 42, 203–209 (2010).

    Article  CAS  Google Scholar 

  11. Albers, C.A. et al. Nat. Genet. 44, 435–439 (2012).

    Article  CAS  Google Scholar 

  12. Marth, G.T. et al. Genome Biol. 12, R84 (2011).

    Article  Google Scholar 

  13. Lupski, J.R., Belmont, J.W., Boerwinkle, E. & Gibbs, R.A. Cell 147, 32–43 (2011).

    Article  CAS  Google Scholar 

  14. Girirajan, S. et al. N. Engl. J. Med. 367, 1321–1331 (2012).

    Article  CAS  Google Scholar 

  15. de Ligt, J. et al. N. Engl. J. Med. published online, doi:10.1056/NEJMoa1206524 (3 October 2012).

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to James R Lupski.

Ethics declarations

Competing interests

The author declares no competing financial interests.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Lupski, J. Digenic inheritance and Mendelian disease. Nat Genet 44, 1291–1292 (2012). https://doi.org/10.1038/ng.2479

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng.2479

This article is cited by

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing