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Navajo microvillous inclusion disease is due to a mutation in MYO5B
Author(s) -
Erickson Robert P.,
LarsonThomé Katherine,
Valenzuela Robert K.,
Whitaker Stacia E.,
Shub Mitchell D.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32605
Subject(s) - loss of heterozygosity , mutation , navajo , disease , genetics , biology , inclusion (mineral) , compound heterozygosity , medicine , allele , gene , psychology , social psychology , linguistics , philosophy
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.