A candidate gene for familial Mediterranean fever

Abstract

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by attacks of fever and serositis. In this paper, we define a minimal co-segregating region of 60 kb containing the FMF gene (MEFV) and identify four different transcript units within this region. One of these transcripts encodes a new protein (marenostrin) related to the ret-finger protein and to butyrophllin. Four conservative missense variations co-segregating with FMF have been found within the MEFV candidate gene in 85% of the carrier chromosomes. These variations, which cluster at the carboxy terminal domain of the protein, were not present in 308 control chromosomes, including 162 validated non-carriers. We therefore propose that the sequence alterations in the marenostrin protein are responsible for the FMF disease.

TRIM-mediated precision autophagy targets cytoplasmic regulators of innate immunity

“…Collectively, the aforementioned findings and experiments described in previous sections demonstrate that TRIM20 assembles both the key regulators of autophagy (ULK1, Beclin 1, and ATG16L1) and a subset of effector factors (mAtg8s). TRIM20 is a receptor for selective autophagy of inflammasome components TRIM20, encoded by the MEFV gene, is a risk locus for familial Mediterranean fever (FMF; French FMF Consortium, 1997;The International FMF Consortium, 1997). TRIM20 has 305 FMF-associated variants (http://fmf.igh.cnrs.fr/ISSAID/ infevers/), with frequent mutations in its PRY/SPRY domain (Masters et al, 2009).…”

Prevalence of the MEFV gene mutations and their clinical correlations in Azeri Turkish patients with childhood Henoch-Schonlein purpura: The role of M680I and E148Q mutations

“…6 Familial Mediterranean fever (FMF) which is characterized by fever and polyserositis is caused by mutations in the MEFV gene. 7,8 Five changes in the sequence of the Mediterranean fever (MEFV) gene have been known in most patients. Mutations in V726A, M694I, M694V and M680I in exon 10, and E148Q in exon 2 are seen in most patients with FMF.…”

Idiopathic chronic polyserositis with massive ascites responding to colchicine in an adult: A case report

“…Both are inherited diseases, characterized by recurrent episodes of fever with serositis and other acute manifestations [5,6,[16][17][18][19] . In 1997, the cloning by two independent consortia of the gene responsible for FMF, named MEFV, located on the short arm of the chromosome 16, made genetic testing of this condition possible [20,21] . Several MEFV mutations were initially identified in exon 10, and accounted for approximately 75% of FMF cases [20,21] .…”

“…In 1997, the cloning by two independent consortia of the gene responsible for FMF, named MEFV, located on the short arm of the chromosome 16, made genetic testing of this condition possible [20,21] . Several MEFV mutations were initially identified in exon 10, and accounted for approximately 75% of FMF cases [20,21] . Subsequently, additional mutations have been found in exons 10, 3, 2, and 5, most of them being less common and manifested by different phenotypic expressions [16] .…”