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Navajo microvillous inclusion disease is due to a mutation in MYO5B

Robert P Erickson1, Katherine Larson-Thomé, Robert K Valenzuela

  • 1Department of Pediatrics, University of Arizona, Tucson, Arizona 85724-5073, USA. erickson@peds.arizona.edu

American Journal of Medical Genetics. Part A
|November 14, 2008
PubMed

Insights

Microvillous Inclusion Disease (MID), a rare inherited gastrointestinal disorder, is more common in Navajo populations. Researchers identified a specific MYO5B gene mutation responsible for MID in affected Navajo individuals.

Area of Science:

  • Genetics
  • Gastroenterology
  • Rare Diseases

Background:

  • Microvillous Inclusion Disease (MID) is a rare, autosomal recessive gastrointestinal disorder.
  • MID exhibits increased frequency within the Navajo population.
  • Previous studies identified RAB8 deficiency and MYO5B mutations in MID patients.

Purpose of the Study:

  • To investigate the genetic basis of Microvillous Inclusion Disease (MID) in the Navajo population.
  • To identify specific mutations in the MYO5B gene associated with MID in this demographic.
  • To develop a diagnostic tool for rapid screening of the identified mutation.

Main Methods:

  • Genetic analysis of affected Navajo individuals and their parents.
  • Identification of homozygous mutations in the MYO5B gene.
  • Development of a restriction enzyme-based assay for mutation screening.

Main Results:

  • A shared homozygous mutation in the MYO5B gene was identified in seven affected Navajos.
  • Heterozygosity for the mutation was confirmed in five parents.
  • A simple and rapid screening assay for this specific MYO5B mutation was developed.

Conclusions:

  • The identified MYO5B mutation is a significant cause of Microvillous Inclusion Disease (MID) in the Navajo population.
  • This finding contributes to understanding the genetic heterogeneity of MID.
  • The developed assay facilitates efficient genetic screening for MID in at-risk individuals.

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