SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, Bertrand Roquelaure,

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Presentation transcript:

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, Bertrand Roquelaure, Egritas Odul, Ersin Sayar, Hilary Smith, Virginie Colomb, Nicolas Andre, Jean-Pierre Hugot, Olivier Goulet, Caroline Lacoste, Jacques Sarles, Julien Royet, Nicolas Levy, Catherine Badens The American Journal of Human Genetics Volume 90, Issue 4, Pages 689-692 (April 2012) DOI: 10.1016/j.ajhg.2012.02.009 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Clinical Presentation of Individuals with SD/THE Syndrome and SKIV2L Mutations (A) Clinical presentation of four individuals with SD/THE syndrome. One individual has mutations in TTC37 (first picture on the left), and three others have mutations in SKIV2L (right panel). (B) A schematic overview of the predicted SKIV2L structure with a helicase ATP-binding domain and a helicase C-terminal domain (UniProt). The location of the domains is annotated by amino acid position. The eight amino acid substitutions are indicated by arrows. (C) Nucleotide sequences are shown for the controls (upper sequence) and for each SKIV2L variant (lower sequence). Arrows indicate mutation positions on the reference sequences. The American Journal of Human Genetics 2012 90, 689-692DOI: (10.1016/j.ajhg.2012.02.009) Copyright © 2012 The American Society of Human Genetics Terms and Conditions