Loss of syntaxin 3 causes variant microvillus inclusion disease

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

doi:10.1053/j.gastro.2014.04.002

Loss of syntaxin 3 causes variant microvillus inclusion disease

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

Hubrecht Institute

Onderzoeksoutput: Bijdrage aan wetenschappelijk tijdschrift/periodieke uitgave › Artikel › Wetenschappelijk › peer review

143 Citaten (Scopus)

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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.

Originele taal-2	Engels
Pagina's (van-tot)	65-68.e10
Tijdschrift	Gastroenterology
Volume	147
Nummer van het tijdschrift	1
DOI's	https://doi.org/10.1053/j.gastro.2014.04.002
Status	Gepubliceerd - jul. 2014

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Wiegerinck, C. L., Janecke, A. R., Schneeberger, K., Vogel, G. F., van Haaften-Visser, D. Y., Escher, J. C., Adam, R., Thöni, C. E., Pfaller, K., Jordan, A. J., Weis, C.-A., Nijman, I. J., Monroe, G. R., van Hasselt, P. M., Cutz, E., Klumperman, J., Clevers, H., Nieuwenhuis, E. E. S., Houwen, R. H. J., ... Middendorp, S. (2014). Loss of syntaxin 3 causes variant microvillus inclusion disease. Gastroenterology, 147(1), 65-68.e10. https://doi.org/10.1053/j.gastro.2014.04.002

@article{f57aa09848c8441589f26d37b390376d,

title = "Loss of syntaxin 3 causes variant microvillus inclusion disease",

abstract = "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.",

keywords = "Biopsy, Caco-2 Cells, Duodenum, Female, Humans, Infant, Intestinal Mucosa, Malabsorption Syndromes, Male, Microvilli, Mucolipidoses, Mutation, Organ Culture Techniques, Qa-SNARE Proteins",

author = "Wiegerinck, {Caroline L} and Janecke, {Andreas R} and Kerstin Schneeberger and Vogel, {Georg F} and {van Haaften-Visser}, {D{\'e}sir{\'e}e Y} and Escher, {Johanna C} and R{\"u}diger Adam and Th{\"o}ni, {Cornelia E} and Kristian Pfaller and Jordan, {Alexander J} and Cleo-Aron Weis and Nijman, {Isaac J} and Monroe, {Glen R} and {van Hasselt}, {Peter M} and Ernest Cutz and Judith Klumperman and Hans Clevers and Nieuwenhuis, {Edward E S} and Houwen, {Roderick H J} and {van Haaften}, Gijs and Hess, {Michael W} and Huber, {Lukas A} and Stapelbroek, {Janneke M} and Thomas M{\"u}ller and Sabine Middendorp",

year = "2014",

month = jul,

doi = "10.1053/j.gastro.2014.04.002",

language = "English",

volume = "147",

pages = "65--68.e10",

journal = "Gastroenterology",

issn = "0016-5085",

publisher = "W.B. Saunders Ltd",

number = "1",

}

Wiegerinck, CL, Janecke, AR, Schneeberger, K, Vogel, GF, van Haaften-Visser, DY, Escher, JC, Adam, R, Thöni, CE, Pfaller, K, Jordan, AJ, Weis, C-A, Nijman, IJ, Monroe, GR, van Hasselt, PM, Cutz, E, Klumperman, J, Clevers, H, Nieuwenhuis, EES, Houwen, RHJ, van Haaften, G, Hess, MW, Huber, LA, Stapelbroek, JM, Müller, T & Middendorp, S 2014, 'Loss of syntaxin 3 causes variant microvillus inclusion disease', Gastroenterology, vol. 147, nr. 1, blz. 65-68.e10. https://doi.org/10.1053/j.gastro.2014.04.002

TY - JOUR

T1 - Loss of syntaxin 3 causes variant microvillus inclusion disease

AU - Wiegerinck, Caroline L

AU - Janecke, Andreas R

AU - Schneeberger, Kerstin

AU - Vogel, Georg F

AU - van Haaften-Visser, Désirée Y

AU - Escher, Johanna C

AU - Adam, Rüdiger

AU - Thöni, Cornelia E

AU - Pfaller, Kristian

AU - Jordan, Alexander J

AU - Weis, Cleo-Aron

AU - Nijman, Isaac J

AU - Monroe, Glen R

AU - van Hasselt, Peter M

AU - Cutz, Ernest

AU - Klumperman, Judith

AU - Clevers, Hans

AU - Nieuwenhuis, Edward E S

AU - Houwen, Roderick H J

AU - van Haaften, Gijs

AU - Hess, Michael W

AU - Huber, Lukas A

AU - Stapelbroek, Janneke M

AU - Müller, Thomas

AU - Middendorp, Sabine

PY - 2014/7

Y1 - 2014/7

N2 - 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.

AB - 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.

KW - Biopsy

KW - Caco-2 Cells

KW - Duodenum

KW - Female

KW - Humans

KW - Infant

KW - Intestinal Mucosa

KW - Malabsorption Syndromes

KW - Male

KW - Microvilli

KW - Mucolipidoses

KW - Mutation

KW - Organ Culture Techniques

KW - Qa-SNARE Proteins

U2 - 10.1053/j.gastro.2014.04.002

DO - 10.1053/j.gastro.2014.04.002

M3 - Article

C2 - 24726755

SN - 0016-5085

VL - 147

SP - 65-68.e10

JO - Gastroenterology

JF - Gastroenterology

IS - 1

ER -

Loss of syntaxin 3 causes variant microvillus inclusion disease

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