title: Navajo microvillous inclusion disease is due to a mutation in MYO5B.
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.
authors.affiliation: Department of Pediatrics, University of Arizona, Tucson, Arizona 85724-5073, USA. erickson@peds.arizona.edu
authors.forename: Robert P
authors.initials: RP
authors.lastname: Erickson
authors.forename: Katherine
authors.initials: K
authors.lastname: Larson-Thomé
authors.forename: Robert K
authors.initials: RK
authors.lastname: Valenzuela
authors.forename: Stacia E
authors.initials: SE
authors.lastname: Whitaker
authors.forename: Mitchell D
authors.initials: MD
authors.lastname: Shub
mesh_terms: D004252:DNA Mutational Analysis; D004586:Electrophoresis; D006801:Humans; D007198:Indians, North American / Q000208:ethnology* / Q000235:genetics*; D008286:Malabsorption Syndromes / Q000208:ethnology* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D024701:Myosin Type V / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: C505832:MYO5B protein, human; D024701:Myosin Type V; D018995:Myosin Heavy Chains