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.
Erickson
Robert P
RP
Department of Pediatrics, University of Arizona, Tucson, Arizona 85724-5073, USA. erickson@peds.arizona.edu
Larson-Thomé
Katherine
K
Valenzuela
Robert K
RK
Whitaker
Stacia E
SE
Shub
Mitchell D
MD
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
C505832:MYO5B protein, human; D024701:Myosin Type V; D018995:Myosin Heavy Chains