An Overview and Online Registry of Microvillus Inclusion Disease Patients and their MYO5B Mutations

Authors

  • K. Joeri van der Velde,

    1. Genomics Coordination Center, Department of Genetics, University Medical Center Groningen, University of Groningen, The Netherlands
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    • These authors contributed equally and should be considered joint first author.

  • Herschel S. Dhekne,

    1. Department of Cell Biology, University Medical Center Groningen, University of Groningen, The Netherlands
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    • These authors contributed equally and should be considered joint first author.

  • Morris A. Swertz,

    1. Genomics Coordination Center, Department of Genetics, University Medical Center Groningen, University of Groningen, The Netherlands
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    • These authors contributed equally and should be considered joint first author.

  • Serena Sirigu,

    1. Structural Motility, Institut Curie, Centre de Recherche, Paris, France
    2. UMR 144, CNRS, Paris, France
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    • These authors contributed equally and should be considered joint first author.

  • Virginie Ropars,

    1. Structural Motility, Institut Curie, Centre de Recherche, Paris, France
    2. UMR 144, CNRS, Paris, France
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  • Petra C. Vinke,

    1. Department of Cell Biology, University Medical Center Groningen, University of Groningen, The Netherlands
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  • Trebor Rengaw,

    1. Genomics Coordination Center, Department of Genetics, University Medical Center Groningen, University of Groningen, The Netherlands
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  • Peter C. van den Akker,

    1. Department of Genetics, University Medical Center Groningen, University of Groningen, The Netherlands
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  • Edmond H. H. M. Rings,

    1. Department of Pediatrics, University Medical Center Groningen, University of Groningen, The Netherlands
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  • Anne Houdusse,

    1. Structural Motility, Institut Curie, Centre de Recherche, Paris, France
    2. UMR 144, CNRS, Paris, France
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    • These authors contributed equally and should be considered joint last author.

  • Sven C. D. van Ijzendoorn

    Corresponding author
    1. Department of Cell Biology, University Medical Center Groningen, University of Groningen, The Netherlands
    • Corresponding author: Sven C. D. van IJzendoorn, Department of Cell Biology (FB34), University Medical Center Groningen, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands. E-mail: s.c.d.van.ijzendoorn@umcg.nl

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    • These authors contributed equally and should be considered joint last author.


  • Contract grant sponsors: The Dutch Digestive foundation (MLDS); FRM équipes, ANR Blanche BLAN (2010 1504 01); ARC Subvention Fixe (SFI20121205398); EU-GEN2PHEN and EU-BioSHARE projects (FP7-HEALTH contracts 200754 and 261433); RP-2 project of BBMRI-NL; Dutch government (NWO 184.021.007).

  • Communicated by Richard G. H. Cotton

ABSTRACT

Microvillus inclusion disease (MVID) is one of the most severe congenital intestinal disorders and is characterized by neonatal secretory diarrhea and the inability to absorb nutrients from the intestinal lumen. MVID is associated with patient-, family-, and ancestry-unique mutations in the MYO5B gene, encoding the actin-based motor protein myosin Vb. Here, we review the MYO5B gene and all currently known MYO5B mutations and for the first time methodologically categorize these with regard to functional protein domains and recurrence in MYO7A associated with Usher syndrome and other myosins. We also review animal models for MVID and the latest data on functional studies related to the myosin Vb protein. To congregate existing and future information on MVID geno-/phenotypes and facilitate its quick and easy sharing among clinicians and researchers, we have constructed an online MOLGENIS-based international patient registry (www.MVID-central.org). This easily accessible database currently contains detailed information of 137 MVID patients together with reported clinical/phenotypic details and 41 unique MYO5B mutations, of which several unpublished. The future expansion and prospective nature of this registry is expected to improve disease diagnosis, prognosis, and genetic counseling.

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