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Navajo microvillous inclusion disease is due to a mutation in MYO5B

✍ Scribed by Robert P. Erickson; Katherine Larson-Thomé; Robert K. Valenzuela; Stacia E. Whitaker; Mitchell D. Shub

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 70 KB
Volume: 146A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32605

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✦ Synopsis

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.

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