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

作者：van der Velde K Joeri; Dhekne Herschel S; Swertz Morris A; Sirigu Serena; Ropars Virginie; Vinke Petra C; Rengaw Trebor; van den Akker Peter C; Rings Edmond H H M; Houdusse Anne; van Ijzendoorn Sven C D^*

来源：Human Mutation, 2013, 34(12): 1597-1605.

DOI：10.1002/humu.22440

• microvillus inclusion disease
• myosin Vb
• MYO5B
• database
• patient registry

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of 137 MVID patients together with reported clinical/phenotypic details and 41 unique MYO5B mutations, of which several unpublished.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.

• 出版日期2013-12