RGD Reference Report - The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA. - Rat Genome Database

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The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA.

Authors: Ong, FS  Vakil, H  Xue, Y  Kuo, JZ  Shah, KH  Lee, RB  Bernstein, KE  Rimoin, DL  Getzug, T  Das, K  Deignan, JL  Rotter, JI  Grody, WW 
Citation: Ong FS, etal., Clin Genet. 2013 Jul;84(1):55-9. doi: 10.1111/cge.12029. Epub 2012 Nov 7.
RGD ID: 7349344
Pubmed: PMID:23038988   (View Abstract at PubMed)
PMCID: PMC3570680   (View Article at PubMed Central)
DOI: DOI:10.1111/cge.12029   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
familial mediterranean fever  IAGP 7349344DNA:mutations:exons:p. M694V more ...RGD 
familial mediterranean fever  ISOMEFV (Homo sapiens)7349344; 7349344DNA:mutations:exons:p. M694V more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mefv  (MEFV innate immunity regulator, pyrin)

Genes (Mus musculus)
Mefv  (Mediterranean fever)

Genes (Homo sapiens)
MEFV  (MEFV innate immunity regulator, pyrin)


Additional Information