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Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF)

✍ Scribed by Xiaoguang Chen; Nathan Fischel-Ghodsian; Andrea Cercek; Melanie Hamon; Gonul Ogur; Rona Lotan; Yehuda Danon; Mordechai Shohat

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 113 KB
Volume: 11
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1998)11:6<456::aid-humu6>3.0.co;2-g

No coin nor oath required. For personal study only.

✦ Synopsis

Familial Mediterranean fever (FMF) is an autosomal recessive disease clinically characterized by recurrent short self-limited attacks of fever accompanied by peritonitis, pleurisy, and arthritis and can lead to amyloidosis and renal failure in the longer term. It is prevalent mainly in non-Ashkenazi Jews, Armenians, Turks, and Arabs. Due to the lack of an accurate diagnostic test, patients often experience years of attacks and invasive diagnostic procedures before the correct diagnosis is made and adequate treatment is begun. Recently, the gene responsible for FMF, denoted pyrin, has been cloned, and three disease mutations have been described (French FMF Consortium, 1997; International FMF Consortium, 1997). In the current study we assessed the spectrum of mutations in this gene in 16 unrelated families of Turkish origin. The three previously reported missense mutations (Met-Ile at codon 680, Met-Val at codon 694, and Val-Ala at codon 726) accounted for 29 of the 34 disease alleles. In one patient in whom no disease mutation was identified, the clinical picture was atypical enough to raise questions regarding the diagnosis. These results imply that the origin of FMF in Turkey is heterogeneous, that molecular diagnosis of FMF is possible in the majority of cases and clinically helpful, and that delineation of the undiscovered disease mutation(s) in the remaining cases remains a high priority.

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