These authors equally contributed.
The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA
Article first published online: 7 NOV 2012
© 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 1, pages 55–59, July 2013
How to Cite
The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for Familial Mediterranean Fever at UCLA., , , , , , , , , , , , .
Each author declares no conflict of interest.
- Issue published online: 9 JUN 2013
- Article first published online: 7 NOV 2012
- Accepted manuscript online: 5 OCT 2012 10:52AM EST
- Manuscript Revised: 25 SEP 2012
- Manuscript Accepted: 25 SEP 2012
- Manuscript Received: 3 AUG 2012
- National Institutes of Health. Grant Number: F32 HL105036
- Cedars-Sinai Medical Center Clinical and Translational Science Institute (CTSI)
- National Center for Research Resources. Grant Number: UL1RR033176
- National Center for Advancing Translational Sciences. Grant Number: UL1TR000124
- clinical laboratory testing;
- Familial Mediterranean Fever;
- molecular diagnostics
Familial Mediterranean fever (FMF), inherited in an autosomal recessive manner, is a systemic auto-inflammatory disorder characterized by recurrent attacks of fever with peritonitis, pleuritis, synovitis and erysipeloid rash. The marenostrin-encoding fever (MEFV) gene, located on chromosome 16p13.3, is the only gene in which mutations are currently known to cause FMF. 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 MEFV 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 MEFV gene were analyzed and the M694V variant was found to be associated with an adverse FMF clinical outcome in the Armenian-American population, manifested by earlier onset of disease, increased severity of disease, and renal amyloidosis.