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Keywords:

  • secretory diarrhea;
  • apical transport;
  • enterocytes;
  • genetic bottlenecks;
  • Ras-associated proteins

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.