title: Towards understanding microvillus inclusion disease.
abstract: Microvillus inclusion disease (MVID) is characterised by onset of intractable life-threatening watery diarrhoea during infancy. Transmission electron microscopy demonstrates shortening or absence of apical microvilli, pathognomonic microvillus inclusions in mature enterocytes and subapical accumulation of periodic acid-Schiff-positive granules or vesicles confirming diagnosis. Mutations in MYO5B have been found to cause MVID. In two patients with MVID, whole-exome sequencing of DNA revealed homozygous truncating mutations in STX3. Mutations in these genes disrupt trafficking between apical cargo vesicles and the apical plasma membrane. Thus, disturbed delivery of certain brush border membrane proteins is a common defect in MVID.
authors.affiliation: Department of Paediatrics I, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria. georg.vogel@i-med.ac.at.|Division of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria. georg.vogel@i-med.ac.at.|Division of Histology and Embryology, Medical University of Innsbruck, Innsbruck, Austria. georg.vogel@i-med.ac.at.
authors.forename: Georg F
authors.initials: GF
authors.lastname: Vogel
authors.affiliation: Division of Histology and Embryology, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Michael W
authors.initials: MW
authors.lastname: Hess
authors.affiliation: Division of Histology and Embryology, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Kristian
authors.initials: K
authors.lastname: Pfaller
authors.affiliation: Division of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Lukas A
authors.initials: LA
authors.lastname: Huber
authors.affiliation: Department of Paediatrics I, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.
authors.forename: Andreas R
authors.initials: AR
authors.lastname: Janecke
authors.affiliation: Department of Paediatrics I, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.
authors.forename: Thomas
authors.initials: T
authors.lastname: Müller
keywords: Enteropathy; MVID; MYO5B; Microvillus inclusion disease; STX3
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