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Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder.
Clin Genet. 2005 Jan; 67(1):6-14.CG

Abstract

Hirschsprung's disease is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the gastrointestinal tract. Genetic dissection was successful as nine genes and four loci for Hirschsprung's disease susceptibility were identified. Different approaches were used to find these loci such as classical linkage in large families, identity by descent mapping in an inbred kindred, candidate gene approaches based on naturally occurring mutant mice models, and finally the use of model-free linkage and association analyzes. In this study, we review the identification of genes and loci involved in the non-syndromic common form and syndromic Mendelian forms of Hirschsprung's disease. The majority of the identified genes are related to Mendelian syndromic forms of Hirschsprung's disease. The non-Mendelian inheritance of sporadic non-syndromic Hirschsprung's disease proved to be complex; involvement of multiple loci was demonstrated in a multiplicative model. We discuss the practical implications of the elucidation of genes associated with Hirschsprung's disease susceptibility for genetic counseling. Finally, we speculate on possible strategies to identify new genes for Hirschsprung's disease.

Authors+Show Affiliations

Brooks AS
Department of Clinical Genetics, Erasmus MC, Rotterdam.
Oostra BA
No affiliation info available
Hofstra RM
No affiliation info available

MeSH

Family HealthGenetic Predisposition to DiseaseGeneticsHirschsprung DiseaseHumansInheritance PatternsMultifactorial Inheritance

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

15617541

Citation

Brooks, A S., et al. "Studying the Genetics of Hirschsprung's Disease: Unraveling an Oligogenic Disorder." Clinical Genetics, vol. 67, no. 1, 2005, pp. 6-14.
Brooks AS, Oostra BA, Hofstra RM. Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder. Clin Genet. 2005;67(1):6-14.
Brooks, A. S., Oostra, B. A., & Hofstra, R. M. (2005). Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder. Clinical Genetics, 67(1), 6-14.
Brooks AS, Oostra BA, Hofstra RM. Studying the Genetics of Hirschsprung's Disease: Unraveling an Oligogenic Disorder. Clin Genet. 2005;67(1):6-14. PubMed PMID: 15617541.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder. AU - Brooks,A S, AU - Oostra,B A, AU - Hofstra,R M W, PY - 2004/12/25/pubmed PY - 2005/7/29/medline PY - 2004/12/25/entrez SP - 6 EP - 14 JF - Clinical genetics JO - Clin Genet VL - 67 IS - 1 N2 - Hirschsprung's disease is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the gastrointestinal tract. Genetic dissection was successful as nine genes and four loci for Hirschsprung's disease susceptibility were identified. Different approaches were used to find these loci such as classical linkage in large families, identity by descent mapping in an inbred kindred, candidate gene approaches based on naturally occurring mutant mice models, and finally the use of model-free linkage and association analyzes. In this study, we review the identification of genes and loci involved in the non-syndromic common form and syndromic Mendelian forms of Hirschsprung's disease. The majority of the identified genes are related to Mendelian syndromic forms of Hirschsprung's disease. The non-Mendelian inheritance of sporadic non-syndromic Hirschsprung's disease proved to be complex; involvement of multiple loci was demonstrated in a multiplicative model. We discuss the practical implications of the elucidation of genes associated with Hirschsprung's disease susceptibility for genetic counseling. Finally, we speculate on possible strategies to identify new genes for Hirschsprung's disease. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/15617541/Studying_the_genetics_of_Hirschsprung's_disease:_unraveling_an_oligogenic_disorder_ DB - PRIME DP - Unbound Medicine ER -