A candidate gene for familial Mediterranean fever View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1997-09

AUTHORS

The French FMF Consortium, Alain Bernot, Christian Clepet, Corinne Dasilva, Catherine Devaud, Jean-Louis Petit, Christophe Caloustian, Corinne Cruaud, Delphine Samson, Françoise Pulcini, Jean Weissenbach, Roland Heilig, Cécile Notanicola, Cécile Domingo, Michael Rozenbaum, Eldad Benchetrit, Rezzan Topaloglu, Marie Dewalle, Christiane Dross, Philippe Hadjari, Madeleine Dupont, Jacques Demaille, Isabelle Touitou, Nizar Smaoui, Brigitte Nedelec, Jean-Philippe Méry, Habiba Chaabouni, Marc Delpech, Gilles Grateau

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. More... »

PAGES

25-31

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0997-25

DOI

http://dx.doi.org/10.1038/ng0997-25

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1009290050

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9288094


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