Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.

doi:10.1016/j.ajhg.2015.02.014

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Article

Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.

American journal of human genetics - 2 Apr 2015

Jiang Qian, Arnold Stacey, Heanue Tiffany, Kilambi Krishna Praneeth, Doan Betty, Kapoor Ashish, Ling Albee Yun, Sosa Maria X, Guy Moltu, Jiang Qingguang, Burzynski Grzegorz, West Kristen, Bessling Seneca, Griseri Paola, Amiel Jeanne, Fernandez Raquel M, Verheij Joke B G M, Hofstra Robert M W, Borrego Salud, Lyonnet Stanislas, Ceccherini Isabella, Gray Jeffrey J, Pachnis Vassilis, McCallion Andrew S, Chakravarti Aravinda

Abstract excerpt

Innervation of the gut is segmentally lost in Hirschsprung disease (HSCR), a consequence of cell-autonomous and non-autonomous defects in enteric neuronal cell differentiation, proliferation, migration, or survival. Rare, high-penetrance coding variants and common, low-penetrance non-coding variants in 13 genes are known to underlie HSCR risk, with the most frequent variants in the ret proto-oncogene (RET). We...

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PMID: 25839327
DOI: 10.1016/j.ajhg.2015.02.014
PMCID: PMC4385176

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