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The marenostrin\u2010encoding fever (<jats:italic><jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content><\/jats:italic>) gene, located on chromosome 16p13.3, is the only gene in which mutations are currently known to cause <jats:styled-content style=\"fixed-case\">FMF<\/jats:styled-content>. To correlate specific genotypes with adverse phenotypes of affected populations residing in the Western United States, a retrospective case series review was conducted of all <jats:italic><jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content><\/jats:italic> gene mutation testing completed at UCLA Clinical Molecular Diagnostic Laboratory between February 2002 and February 2012, followed by clinical chart review of all subjects who either have a single or double mutation. All 12 common mutations in the <jats:styled-content style=\"fixed-case\"><jats:italic>MEFV<\/jats:italic><\/jats:styled-content> gene were analyzed and the <jats:styled-content style=\"fixed-case\">M694V<\/jats:styled-content> variant was found to be associated with an adverse <jats:styled-content style=\"fixed-case\">FMF<\/jats:styled-content> clinical outcome in the Armenian\u2010American population, manifested by earlier onset of disease, increased severity of disease, and renal amyloidosis.<\/jats:p>","DOI":"10.1111\/cge.12029","type":"journal-article","created":{"date-parts":[[2012,10,5]],"date-time":"2012-10-05T17:57:05Z","timestamp":1349459825000},"page":"55-59","source":"Crossref","is-referenced-by-count":12,"title":["The <scp>M694V<\/scp> mutation\u2009in\u2009Armenian\u2010Americans: a 10\u2010year retrospective study of <i><scp>MEFV<\/scp><\/i> mutation testing for familial Mediterranean fever at 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