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Brief Communication

Nature Genetics 40, 1163–1165 (1 October 2008) | doi:10.1038/ng.225

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity

Thomas M|[uuml]|ller , Michael W Hess , Natalia Schiefermeier , Kristian Pfaller , Hannes L Ebner , Peter Heinz-Erian , Hannes Ponstingl , Joachim Partsch , Barbara R|[ouml]|llinghoff , Henrik K|[ouml]|hler , Thomas Berger , Henning Lenhartz , Barbara Schlenck , Roderick J Houwen , Christopher J Taylor , Heinz Zoller , Silvia Lechner , Olivier Goulet , Gerd Utermann , Frank M Ruemmele , Lukas A Huber & Andreas R Janecke

Following homozygosity mapping in a single kindred, we identified nonsense and missense mutations in MYO5B, encoding type Vb myosin motor protein, in individuals with microvillus inclusion disease (MVID). MVID is characterized by lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli.