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trichohepatoenteric syndrome

Wednesday 28 March 2012

Syndromic diarrhea (or trichohepatoenteric syndrome)

Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair.

It has recently been associated with mutations in TTC37.

Databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors.

The Ski complex is a multiprotein complex required for exosome-mediated RNA surveillance, including the regulation of normal mRNA and the decay of nonfunctional mRNA.

Mutations in genes encoding cofactors of the human Ski complex cause syndromic diarrhea, establishing a link between defects of the human exosome complex and a Mendelian disease.


- SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome. Fabre A, Charroux B, Martinez-Vinson C, Roquelaure B, Odul E, Sayar E, Smith H, Colomb V, Andre N, Hugot JP, Goulet O, Lacoste C, Sarles J, Royet J, Levy N, Badens C. Am J Hum Genet. 2012 Mar 20. PMID: 22444670

- Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. Fabre A, Martinez-Vinson C, Roquelaure B, Missirian C, André N, Breton A, Lachaux A, Odul E, Colomb V, Lemale J, Cézard JP, Goulet O, Sarles J, Levy N, Badens C. Hum Mutat. 2011 Mar;32(3):277-81. PMID: 21120949

- Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Hartley JL, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, Morgan NV, Tee L, Gissen P, Kahr WH, Knisely AS, Watson S, Chitayat D, Booth IW, Protheroe S, Murphy S, de Vries E, Kelly DA, Maher ER. Gastroenterology. 2010 Jun;138(7):2388-98, 2398.e1-2. PMID: 20176027 [Free]