How to cite this article: Erickson RP, Larson-Thomé K, Valenzuela RK, Whitaker SE, Shub MD 2008. Navajo microvillous inclusion disease is due to a mutation in MYO5B. Am J Med Genet Part A 146A:3117–3119.
Navajo microvillous inclusion disease is due to a mutation in MYO5B†
Article first published online: 12 NOV 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 24, pages 3117–3119, 15 December 2008
How to Cite
Erickson, R. P., Larson-Thomé, K., Valenzuela, R. K., Whitaker, S. E. and Shub, M. D. (2008), Navajo microvillous inclusion disease is due to a mutation in MYO5B. Am. J. Med. Genet., 146A: 3117–3119. doi: 10.1002/ajmg.a.32605
- Issue published online: 21 NOV 2008
- Article first published online: 12 NOV 2008
- Manuscript Accepted: 17 OCT 2008
- Manuscript Received: 24 SEP 2008
- secretory diarrhea;
- apical transport;
- genetic bottlenecks;
- Ras-associated proteins
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.