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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Navajo microvillous inclusion disease is due to a mutation in MYO5B.

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.[1]

References

  1. Navajo microvillous inclusion disease is due to a mutation in MYO5B. Erickson, R.P., Larson-Thomé, K., Valenzuela, R.K., Whitaker, S.E., Shub, M.D. Am. J. Med. Genet. A (2008) [Pubmed]
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