Article
Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach.
American journal of medical genetics. Part A - 1 Jul 2021
Wolfe Rachel M, Mohsen Al-Walid, Walsh Vockley Cate, Bertrand Carol A, Nicholls Robert D, Heiman Paige, Seibold Leah M, Vockley Jerry, Ghaloul-Gonzalez Lina
Abstract excerpt
Guanylate cyclase 2C (GC-C), encoded by the GUCY2C gene, is implicated in hereditary early onset chronic diarrhea. Several families with chronic diarrhea symptoms have been identified with autosomal dominant, gain-of-function mutations in GUCY2C. We have identified a Mennonite patient with a novel GUCY2C variant (c.2381A > T; p.Asp794Val) with chronic diarrhea and an extensive maternal family history of chronic...
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