Advances in Molecular Genetics of Hirschsprung's Disease
Article first published online: 19 JUL 2012
Copyright © 2012 Wiley Periodicals, Inc.
The Anatomical Record
Volume 295, Issue 10, pages 1628–1638, October 2012
How to Cite
Pan, Z.-W. and Li, J.-C. (2012), Advances in Molecular Genetics of Hirschsprung's Disease. Anat Rec, 295: 1628–1638. doi: 10.1002/ar.22538
- Issue published online: 12 SEP 2012
- Article first published online: 19 JUL 2012
- Manuscript Accepted: 21 JUN 2012
- Manuscript Received: 4 JUN 2012
- Hirschsprung's disease;
- susceptibility gene;
Hirschsprung's disease (HSCR) is a developmental disorder of the enteric nervous system, which occurs due to the failure of neural crest cells to fully colonize the gut during embryonic development. It is characterized by the absence of the enteric ganglia in a variable length of the intestine. Substantial progress has been made in understanding the genetic basis of HSCR with the help of advanced genetic analysis techniques and animal models. More than 11 genes have been found to be involved in the pathogenesis of HSCR. The RET gene is the most important susceptibility gene involved in HSCR with both coding and non- coding sequence mutations. Due to phenotypic diversity and genetic complexity observed in HSCR, mutational analysis has limited practical value in genetic counseling and clinical practice. In this review, we discuss the progress that has been made in understanding the molecular genetics of HSCR and summarize the currently identified genes as well as interactions between pathways and gene-modifying loci in HSCR. Anat Rec, 2012. © 2012 Wiley Periodicals, Inc.