Pyrin
This gene encodes a protein, also known as pyrin or marenostrin, that plays an important modulator in innate immunity. Mutations in this gene are causeautosomal recessive or dominant Mediterranean fever.
Interpretation
the group of disorders caused by mutations of the MEFV gene are called pyrin-associated autoinflammatory diseases. Recessive familial Mediterranean fever is caused by mutations in exon 10 that encodes the pyrin B30.2 domain. A great number of patient harbor only one mutation in that exon. The severe clinical cause may be aggravated by an additional mutation in exon 3 (p.Pro373Leu), exon 5 (p.His478Tyr) or exon 8 (p.Thr577/Ser/Asn/Ala).
A different phenotype, dominant acute febrile neutrophilic dermatosis, is caused by missense mutations of codons 242 and 244 in exon 2. These mutations alter phosphorilation dependent pyrin inhibition by the 14-3-3 protein.
Genetests:
Related Diseases:
References:
1. |
Aldea A et al. (2004) A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?
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Chae JJ et al. (2003) Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis.
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11. |
None (2001) Modifier genes in mice and humans.
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Chae JJ et al. (2006) The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.
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13. |
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Bernot A et al. (1998) Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
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Shoham NG et al. (2003) Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway.
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24. |
Yu JW et al. (2007) Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants.
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25. |
Aksentijevich I et al. (1999) Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
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26. |
Mansfield E et al. (2001) The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.
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27. |
El-Shanti H et al. (2006) Familial mediterranean fever in Arabs.
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29. |
Yuval Y et al. (1995) Dominant inheritance in two families with familial Mediterranean fever (FMF).
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30. |
None (1997) A candidate gene for familial Mediterranean fever.
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31. |
None (1997) Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.
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32. |
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33. |
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34. |
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35. |
Centola M et al. (2000) The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators.
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36. |
Chae JJ et al. (2000) Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial mediterranean fever.
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37. |
Papin S et al. (2000) Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus.
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38. |
Mansour I et al. (2001) Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.
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39. |
Schaner P et al. (2001) Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states.
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40. |
None (2001) The spectrum of Familial Mediterranean Fever (FMF) mutations.
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41. |
NCBI article
NCBI 4210
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42. |
OMIM.ORG article
Omim 608107
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43. |
Orphanet article
Orphanet ID 123191
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44. |
Wikipedia article
Wikipedia EN (MEFV)
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Update: Aug. 14, 2020