title: A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.
abstract: Hirschsprung disease (HSCR) is characterized by a congenital absence of enteric ganglia along a variable length of the intestine. Although long considered to be a multifactorial disease, we have identified linkage in a subset of five HSCR families to the pericentromeric region of chromosome 10, thereby providing monogenic inheritance in some families. A maximum two-point lod score of 3.37 (theta = 0.045) was observed between HSCR and D10S176, under an incompletely penetrant dominant model. Multipoint, affecteds-only and non-parametric analyses supported this finding and localize this gene to a region of approximately 7 centiMorgans, in close proximity to the locus for multiple endocrine neoplasia type 2 (MEN2). The co-occurrence of these two entities in some families might be attributable to shared pathogenetic origins.
authors.affiliation: Department of Human Genetics, University of Pittsburgh, Pennsylvania 15261.
authors.forename: M
authors.initials: M
authors.lastname: Angrist
authors.forename: E
authors.initials: E
authors.lastname: Kauffman
authors.forename: S A
authors.initials: SA
authors.lastname: Slaugenhaupt
authors.forename: T C
authors.initials: TC
authors.lastname: Matise
authors.forename: E G
authors.initials: EG
authors.lastname: Puffenberger
authors.forename: S S
authors.initials: SS
authors.lastname: Washington
authors.forename: A
authors.initials: A
authors.lastname: Lipson
authors.forename: D T
authors.initials: DT
authors.lastname: Cass
authors.forename: T
authors.initials: T
authors.lastname: Reyna
authors.forename: D E
authors.initials: DE
authors.lastname: Weeks
mesh_terms: D000483:Alleles; D002503:Centromere; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D005190:Family; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree
chemical_list: D005819:Genetic Markers