Publication

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

van der Velde, K. J., Dhekne, H. S., Swertz, M. A., Sirigu, S., Ropars, V., Vinke, P. C., Rengaw, T., van den Akker, P. C., Rings, E. H. H. M., Houdusse, A. & van Ijzendoorn, S. C. D., Dec-2013, In : Human Mutation. 34, 12, p. 1597-1605 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

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of 137 MVID patients together with reported clinical/phenotypic details and 41 unique MYO5B mutations, of which several unpublished.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. (C) 2013 Wiley Periodicals, Inc.

Original languageEnglish
Pages (from-to)1597-1605
Number of pages9
JournalHuman Mutation
Volume34
Issue number12
Publication statusPublished - Dec-2013

    Keywords

  • microvillus inclusion disease, myosin Vb, MYO5B, database, patient registry, EPITHELIAL-CELL POLARITY, LIGHT-MICROSCOPIC DIAGNOSIS, PLASMA-MEMBRANE DOMAIN, APICAL COMPARTMENT VAC, CLASS V MYOSINS, RECYCLING ENDOSOMES, PROTRACTED DIARRHEA, REGULATED EXOCYTOSIS, GENOME-WIDE, ATROPHY

ID: 5991104