Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2020 Jan;97(1):114-124.
doi: 10.1111/cge.13615. Epub 2019 Aug 5.

What is new about the genetic background of Hirschsprung disease?

Berta Luzón-Toro  1   2 , Leticia Villalba-Benito  1   2 , Ana Torroglosa  1   2 , Raquel M Fernández  1   2 , Guillermo Antiñolo  1   2 , Salud Borrego  1   2
Affiliations
Review

What is new about the genetic background of Hirschsprung disease?

Berta Luzón-Toro et al. Clin Genet. 2020 Jan.

Abstract

Hirschsprung disease (HSCR) is a rare congenital disorder caused by an incorrect enteric nervous system development due to a failure in migration, proliferation, differentiation and/or survival of enteric neural crest cells. HSCR is a complex genetic disease, where alterations at different molecular levels are required for the manifestation of the disease. In addition, a wide spectrum of mutations affecting many different genes cause HSCR, although the occurrence and severity of HSCR from many cases still remain unexplained. This review summarizes the current knowledge about molecular genetic basis of HSCR.

Keywords: Hirschsprung disease; additive model; genetics; polygenic disease.

PubMed Disclaimer

References

REFERENCES

    1. Chakravarti A, Lyonnet S. The metabolic and molecular bases of inherited disease. In: Beaudet AR, Scriver CR, Sly W, Valle D, eds. 8th edn, McGraw-Hill; 2001.
    1. Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet. 2008;45(1):1-14.
    1. Garver KL, Law JC, Garver B. Hirschsprung disease: a genetic study. Clin Genet. 1985;28(6):503-508.
    1. Passarge E. The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families. N Engl J Med. 1967;276(3):138-143.
    1. Badner JA, Sieber WK, Garver KL, Chakravarti A. A genetic study of Hirschsprung disease. Am J Hum Genet. 1990;46(3):568-580.

Publication types

MeSH terms

Substances

LinkOut - more resources