A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Angrist, M; Kauffman, E; Slaugenhaupt, SA; Matise, TC; Puffenberger, EG; Washington, SS; Lipson, A; Cass, DT; Reyna, T; Weeks, DE

Published Date

  • August 1993

Published In

Volume / Issue

  • 4 / 4

Start / End Page

  • 351 - 356

PubMed ID

  • 8401581

Electronic International Standard Serial Number (EISSN)

  • 1546-1718

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/ng0893-351


  • eng