Congenital diarrheas are a group of rare chronic enteropathies characterized by a heterogeneous etiology. In the first weeks of life, patients usually present with severe diarrhea that within a few hours leads to a life-threatening condition secondary to massive dehydration and metabolic acidosis.
Haas JT, Winter HS, Lim E, Kirby A, Blumenstiel B, DeFelice M, Gabriel S, Jalas C, Branski D, Grueter CA, Toporovski MS, Walther TC, Daly MJ, Farese RV Jr
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DGAT1 mutation is linked to a congenital diarrheal disorder.
Elkadri A, Thoeni C, Deharvengt SJ, Murchie R, Guo C, Stavropoulos JD, Marshall CR, Wales P, Bandsma R, Cutz E, Roifman CM, Chitayat D, Avitzur Y, Stan RV, Muise AM
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Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia.
Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y, Pennacchio LA
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Noncoding deletions reveal a gene that is critical for intestinal function.
Gaibee Z, Warner N, Bugda Gwilt K, Li W, Guan R, Yourshaw M, Whittaker Hawkins R, Zorbas C, St-Germain J, Tabatabaie M, Mao S, Pinsk V, Yerushalmi B, Wang LK, Nelson SF, Wozniak L, Shouval DS, Matar M, Assa A, Frost N, Jimenez L, Acra S, Walters T, Mouat S, Li M, Lafontaine DLJ, Tyska M, Raught B, Avitzur Y, Lencer WI, Goldenring JR, Martin MG, Thiagarajah JR, Muise AM
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The Genetic Architecture of Congenital Diarrhea and Enteropathy.
