Loss of syntaxin 3 causes variant microvillus inclusion disease
CL Wiegerinck, AR Janecke, K Schneeberger… - Gastroenterology, 2014 - Elsevier
Gastroenterology, 2014•Elsevier
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 …
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 …
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.
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