title: The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA.
abstract: 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.
authors.affiliation: Department of Biomedical Sciences; Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90095, USA.
authors.forename: F S
authors.initials: FS
authors.lastname: Ong
authors.forename: H
authors.initials: H
authors.lastname: Vakil
authors.forename: Y
authors.initials: Y
authors.lastname: Xue
authors.forename: J Z
authors.initials: JZ
authors.lastname: Kuo
authors.forename: K H
authors.initials: KH
authors.lastname: Shah
authors.forename: R B
authors.initials: RB
authors.lastname: Lee
authors.forename: K E
authors.initials: KE
authors.lastname: Bernstein
authors.forename: D L
authors.initials: DL
authors.lastname: Rimoin
authors.forename: T
authors.initials: T
authors.lastname: Getzug
authors.forename: K
authors.initials: K
authors.lastname: Das
authors.forename: J L
authors.initials: JL
authors.lastname: Deignan
authors.forename: J I
authors.initials: JI
authors.lastname: Rotter
authors.forename: W W
authors.initials: WW
authors.lastname: Grody
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002140:California / Q000453:epidemiology; D002885:Chromosomes, Human, Pair 16; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005006:Ethnicity; D010505:Familial Mediterranean Fever / Q000208:ethnology* / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D000071198:Pyrin; D012189:Retrospective Studies; D012720:Severity of Illness Index
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin