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

Misha Angrist, Erick Kauffman, Susan A. Slaugenhaupt, Tara Cox Matise, Erik G. Puffenberger, Sarah Shaw Washington, Anthony Lipson, Daniel T. Cass, Troy Reyna, Daniel E. Weeks, William Sieber, Aravinda Chakravarti

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143 Scopus citations

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 proving monogenic inheritance in some families. A maximum two-point lod score of 3.37 (θ = 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 ≈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.

Original languageEnglish (US)
Pages (from-to)351-356
Number of pages6
JournalNature genetics
Volume4
Issue number4
DOIs
StatePublished - Aug 1993

ASJC Scopus subject areas

  • Genetics

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