Background

This international Microvillus Inclusion Disease (MVID) Patient Registry is constructed to aid all clinicians and scientists working in the field of Microvillus Inclusion Disease and the MYO5B gene. The registry contains all MVID patients who have been published in the medical literature together with their MYO5B genotypes, clinical phenotypes and molecular phenotypes. The MVID Registry can be searched for patients or mutations, and each by several categories. The registry also contains a number of unpublished patients and MYO5B mutations. Therefore, this registry can be used as a central, quick reference for all who work in the MVID field. You are free to use the registry for your studies.

Mutations are numbered according to the current reference sequence (Genbank Accession no. xxxxxxxxxx). Mutations nomenclature is according to the HGVS recommendations

About Microvillus Inclusion Disease and the MYO5B gene

Microvillus inclusion disease (MVID; OMIM 251850) is a rare autosomal recessive disease presenting with severe intractable diarrhea and malabsorption in neonates. An early onset and late onset form of MVID are distinguished. At the cellular level, variable brush border atrophy with intracellular accumulation of lysosomal granules and microvillus inclusions in the apical cytoplasm is observed in MVID enterocytes. Apical brush border proteins involved in the processing and absorption of nutrients are typically absent from the cell surface and accumulate in compartments in the apical cytoplasm. The MVID diagnosis is made by light and electron microscopy.

MVID is believed to be caused by mutations in the MYO5B gene on chromosome 18. To date, different nonsense, missense, splice site, or in-frame insertion mutations in the MYO5B gene (OMIM# 606540) have been identified in MVID patients.

The MYO5B gene encodes myosin Vb, which is an actin filament-based motor protein that interacts with and regulates among others the subcellular spatial distribution of recycling endosomes that express small GTPase proteins such as Rab11a or Rab8 on their cytoplasmic surface.

About the data

The MVID Registry is maintained by the departments of Genetics, Pediatrics, and Cell Biology of the University Medical Center Groningen, the Netherlands on behalf of an international initiative of departments involved in the clinical care for patients with MVID and research into MVID.

About the software

The database software has been constructed by the Genomics Coordination Center, a joined venture of the Dept. of Genetics, UMCG and the Groningen Bioinformatics Center, University of Groningen, the Netherlands. All software is build using the open source MOLGENIS framework (Swertz et al., Bioinformatics, 2004 and Swertz & Jansen, Nature Reviews Genetics, 2007) and is freely available to others working on locus specific databases at http://www.deb-central.org/molgenis.do Please contact Dr. Morris Swertz, m.a.swertz@rug.nl if you need assistence.