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Hum Mutat. 2018 Mar;39(3):333-344. doi: 10.1002/humu.23386. Epub 2018 Jan 17.

MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.

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Department of Cell Biology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Structural Motility, Institute Curie, Centre de Reserche, Paris, France.
Department of Cell Biology, University Medical Center Utrecht, Utrecht, the Netherlands
Genomics Coordination Center, Department of Genetics, University Medical Center Groningen, University of Groningen, The Netherlands.
Department of Pediatrics, Erasmus Medical Center Rotterdam, Erasmus University Rotterdam, Rotterdam, The Netherlands.
Department of Pediatrics, Leiden University Medical Center, Leiden University, Leiden, The Netherlands.
Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.
Cellular Protein Chemistry, Bijvoet Center for Biomolecular Research, Utrecht University, Utrecht, The Netherlands

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Microvillus inclusion disease (MVID) is a rare but fatal autosomal recessive congenital diarrheal disorder caused by MYO5B mutations. In 2013, we launched an open-access registry for MVID patients and their MYO5B mutations ( Since then, additional unique MYO5B mutations have been identified in MVID patients, but also in non-MVID patients. Animal models have been generated that formally prove the causality between MYO5B and MVID. Importantly, mutations in two other genes, STXBP2 and STX3, have since been associated with variants of MVID, shedding new light on the pathogenesis of this congenital diarrheal disorder. Here, we review these additional genes and their mutations. Furthermore, we discuss recent data from cell studies that indicate that the three genes are functionally linked and, therefore, may constitute a common disease mechanism that unifies a subset of phenotypically linked congenital diarrheal disorders. We present new data based on patient material to support this. To congregate existing and future information on MVID geno-/phenotypes, we have updated and expanded the MVID registry to include all currently known MVID-associated gene mutations, their demonstrated or predicted functional consequences, and associated clinical information.


MYO5B; STX3; STXBP2; congenital diarrheal diseases; enteropathy; microvillus inclusion disease; munc18-2; myosin VB; syntaxin-3

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