Segregation at three loci explains familial and population risk in Hirschsprung disease.
Journal Article (Journal Article)
Hirschsprung disease (HSCR), the most common hereditary cause of intestinal obstruction, shows considerable variation and complex inheritance. Coding sequence mutations in RET, GDNF, EDNRB, EDN3 and SOX10 lead to long-segment (L-HSCR) and syndromic HSCR but fail to explain the transmission of the much more common short-segment form (S-HSCR). We conducted a genome scan in families with S-HSCR and identified susceptibility loci at 3p21, 10q11 and 19q12 that seem to be necessary and sufficient to explain recurrence risk and population incidence. The gene at 10q11 is probably RET, supporting its crucial role in all forms of HSCR; however, coding sequence mutations are present in only 40% of linked families, suggesting the importance of noncoding variation. Here we show oligogenic inheritance of S-HSCR, the 3p21 and 19q12 loci as RET-dependent modifiers, and a parent-of-origin effect at RET. This study demonstrates by a complete genetic dissection why the inheritance pattern of S-HSCR is nonmendelian.
Full Text
Duke Authors
Cited Authors
- Gabriel, SB; Salomon, R; Pelet, A; Angrist, M; Amiel, J; Fornage, M; Attié-Bitach, T; Olson, JM; Hofstra, R; Buys, C; Steffann, J; Munnich, A; Lyonnet, S; Chakravarti, A
Published Date
- May 2002
Published In
Volume / Issue
- 31 / 1
Start / End Page
- 89 - 93
PubMed ID
- 11953745
Electronic International Standard Serial Number (EISSN)
- 1546-1718
International Standard Serial Number (ISSN)
- 1061-4036
Digital Object Identifier (DOI)
- 10.1038/ng868
Language
- eng