Skip to main content

Thank you for visiting 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.

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

Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.

Figure 1: Digenic inheritance and genetic interaction in FSHD2.


  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


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).

Download citation

  • Published:

  • Issue Date:

  • DOI:

This article is cited by


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