Skip to main content
SpringerLink
Log in

Digenic inheritance and Mendelian disease

  • News & Views
  • Published:

From Nature Genetics

View current issue Submit your manuscript

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, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

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

  1. James R. Lupski is in the Department of Molecular and Human Genetics and the Department of Pediatrics at the Baylor College of Medicine, Houston, Texas, USA, and at the Texas Children's Hospital, Houston, Texas, USA.,

    James R Lupski

Authors
  1. James R Lupski
    View author publications

    You can also search for this author in PubMed Google Scholar

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

  • Springer Nature America, Inc.

This article is cited by

Search

Navigation