| First Author | French FMF Consortium. | Year | 1997 |
| Journal | Nat Genet | Volume | 17 |
| Issue | 1 | Pages | 25-31 |
| PubMed ID | 9288094 | Mgi Jnum | J:42716 |
| Mgi Id | MGI:1096195 | Doi | 10.1038/ng0997-25 |
| Citation | French FMF Consortium (1997) A candidate gene for familial Mediterranean fever. The French FMF Consortium. Nat Genet 17(1):25-31 |
| abstractText | 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. |
