Details

Autor(en) / Beteiligte

• Wiegerinck, Caroline L
• Janecke, Andreas R
• Schneeberger, Kerstin
• Vogel, Georg F
• van Haaften–Visser, Désirée Y
• Escher, Johanna C
• Adam, Rüdiger
• Thöni, Cornelia E
• Pfaller, Kristian
• Jordan, Alexander J
• Weis, Cleo–Aron
• Nijman, Isaac J
• Monroe, Glen R
• van Hasselt, Peter M
• Cutz, Ernest
• Klumperman, Judith
• Clevers, Hans
• Nieuwenhuis, Edward E.S
• Houwen, Roderick H.J
• van Haaften, Gijs
• Hess, Michael W
• Huber, Lukas A
• Stapelbroek, Janneke M
• Müller, Thomas
• Middendorp, Sabine

Titel

Loss of Syntaxin 3 Causes Variant Microvillus Inclusion Disease

Ist Teil von

• Gastroenterology (New York, N.Y. 1943), 2014-07, Vol.147 (1), p.65-68.e10

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2014

Quelle

MEDLINE

Beschreibungen/Notizen

• Microvillus inclusion disease (MVID) is a disorder of intestinal epithelial differentiation characterized by life-threatening intractable diarrhea. MVID can be diagnosed based on loss of microvilli, microvillus inclusions, and accumulation of subapical vesicles. Most patients with MVID have mutations in myosin Vb that cause defects in recycling of apical vesicles. Whole-exome sequencing of DNA from patients with variant MVID showed homozygous truncating mutations in syntaxin 3 ( STX3 ). STX3 is an apical receptor involved in membrane fusion of apical vesicles in enterocytes. Patient-derived organoid cultures and overexpression of truncated STX3 in Caco-2 cells recapitulated most characteristics of variant MVID. We conclude that loss of STX3 function causes variant MVID.