| Literature DB >> 8401581 |
M Angrist1, E Kauffman, S A Slaugenhaupt, T C Matise, E G Puffenberger, S S Washington, A Lipson, D T Cass, T Reyna, D E Weeks.
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.Entities:
Mesh：
Substances：
Year: 1993 PMID： 8401581 DOI： 10.1038/ng0893-351
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330