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MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity

Nature Genetics volume 40, pages 1163–1165 (2008)Cite this article

Abstract

Following homozygosity mapping in a single kindred, we identified nonsense and missense mutations in MYO5B, encoding type Vb myosin motor protein, in individuals with microvillus inclusion disease (MVID). MVID is characterized by lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli. In addition, mislocalization of transferrin receptor in MVID enterocytes suggests that MYO5B deficiency causes defective trafficking of apical and basolateral proteins in MVID.

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Figure 1: Immunofluorescence of jejunal biopsy samples from four different individuals with MYO5B mutations and a control individual.

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Acknowledgements

We thank S. Steiner, V. Wild, K. Gutleben, A. Flörl, T. Erdel and D. Hilber for technical assistance. The work was supported by the Austrian Science Funds (FWF), grants P18470 to A.R.J., SFB021 to L.A.H., P19486-B12 to M.W.H., Jubiläumsfonds grant P-11050 and support from TILAK-Universitätskliniken to M.W.H., a Dr.-Legerlotz-Stiftung grant to A.R.J. and a grant by Raiffeisen Landesbank-Tirol AG to T.M.

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Author notes

  1. Gerd Utermann, Frank M Ruemmele, Lukas A Huber and Andreas R Janecke: These authors contributed equally to this work.

Authors and Affiliations

  1. Department of Pediatrics II, Innsbruck Medical University, Innsbruck, 6020, Austria

    Thomas Müller & Peter Heinz-Erian

  2. Division of Histology and Embryology, Innsbruck Medical University, Innsbruck, 6020, Austria

    Michael W Hess, Kristian Pfaller & Hannes L Ebner

  3. Division of Cell Biology, Biocenter, Innsbruck Medical University, Innsbruck, 6020, Austria

    Natalia Schiefermeier & Lukas A Huber

  4. Sequencing Informatics Division, The Wellcome Trust Sanger Institute, Cambridge, CB10 1SA, UK

    Hannes Ponstingl

  5. Children's Hospital Esslingen, Esslingen, 73730, Germany

    Joachim Partsch & Barbara Röllinghoff

  6. Department of Pediatrics, University of Erlangen, Erlangen, 91054, Germany

    Henrik Köhler

  7. Department of Pediatrics, University of Witten-Herdecke, Datteln, 45711, Germany

    Thomas Berger

  8. Children's Hospital Wilhelmstift, Hamburg, 22194, Germany

    Henning Lenhartz

  9. Division of Pediatric Urology, Innsbruck Medical University, Innsbruck, 6020, Austria

    Barbara Schlenck

  10. Pediatric Gastroenterology, Wilhelmina Children's Hospital, P.O. 85090, Utrecht, 3508, AB, The Netherlands

    Roderick J Houwen

  11. Department of Child Health, University of Sheffield, Sheffield, S102TH, UK

    Christopher J Taylor

  12. Clinical Division of Gastroenterology and Hepatology, Innsbruck Medical University, Innsbruck, 6020, Austria

    Heinz Zoller

  13. Division of Clinical Genetics, Innsbruck Medical University, Innsbruck, 6020, Austria

    Silvia Lechner, Gerd Utermann & Andreas R Janecke

  14. Institute for Applied Systems Research and Development, University for Health Sciences, Medical Informatics and Technology (UMIT), 6060 Hall, Austria

    Silvia Lechner

  15. Département de Pédiatrie, Université Paris Descartes, Faculté Necker, Institut national de la santé et de la recherche médicale (INSERM U793), Assistance Publique-Hopitaux de Paris, Service de Gastroentérologie pédiatrique, Paris, 75743, France

    Olivier Goulet & Frank M Ruemmele

Authors
  1. Thomas Müller
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  2. Michael W Hess
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  14. Roderick J Houwen
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  15. Christopher J Taylor
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  17. Silvia Lechner
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  18. Olivier Goulet
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  19. Gerd Utermann
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  20. Frank M Ruemmele
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  21. Lukas A Huber
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  22. Andreas R Janecke
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Corresponding author

Correspondence to Andreas R Janecke.

Supplementary information

Supplementary Text and Figures

Supplementary Note, Supplementary Methods, Supplementary Figures 1–3 and Supplementary Table 1 (PDF 248 kb)

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Müller, T., Hess, M., Schiefermeier, N. et al. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet 40, 1163–1165 (2008). https://doi.org/10.1038/ng.225

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