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Navajo microvillous inclusion disease is due to a mutation in MYO5B

Authors


  • How to cite this article: Erickson RP, Larson-Thomé K, Valenzuela RK, Whitaker SE, Shub MD 2008. Navajo microvillous inclusion disease is due to a mutation in MYO5B. Am J Med Genet Part A 146A:3117–3119.

Abstract

Microvillous Inclusion Disease (MID) is a rare, autosomal recessive gastrointestinal disease of increased frequency among the Navajos. Previous work has shown a deficiency of RAB8 in one Japanese patient, while homozygous mutations in MYO5B were found in 7 of 10 mostly Middle Eastern families. We have identified a shared homozygous mutation in MYO5B in seven affected Navajos with the expected heterozygosity in five parents. We have developed a simple restriction enzyme based assay that allows for rapid screening for this mutation. © 2008 Wiley-Liss, Inc.

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