Navajo microvillous inclusion disease is due to a mutation in MYO5B
RP Erickson, K Larson‐Thomé… - American Journal of …, 2008 - Wiley Online Library
RP Erickson, K Larson‐Thomé, RK Valenzuela, SE Whitaker, MD Shub
American Journal of Medical Genetics Part A, 2008•Wiley Online LibraryAbstract 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 …
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 …
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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