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 (θ̂ = 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.
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Angrist, M., Kauffman, E., Slaugenhaupt, S. et al. A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nat Genet 4, 351–356 (1993). https://doi.org/10.1038/ng0893-351
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DOI: https://doi.org/10.1038/ng0893-351
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