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Clin Genet. 2019 Jul 29. doi: 10.1111/cge.13615. [Epub ahead of print]

What is new about the genetic background of Hirschsprung disease?

Author information

1
Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.
2
Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain.

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

PMID:
31355911
DOI:
10.1111/cge.13615

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