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Rheumatology Advance Access originally published online on October 15, 2007
Rheumatology 2007 46(11):1718-1722; doi:10.1093/rheumatology/kem228
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© The Author 2007. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Unique spectrum of MEFV mutations in Iranian Jewish FMF patients—clinical and demographic significance

Y. Shinar, I. Kuchuk, S. Menasherow, M. Kolet, M. Lidar, P. Langevitz and A. Livneh

Heller Institute, Sheba Medical Center, Tel Hashomer, Israel, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

Correspondence to: Y. Shinar, Heller Institute, Sheba Medical Center, Tel Hashomer 52621, Israel. E-mail: yshinar{at}sheba.health.gov.il


  Abstract

Objectives. To determine the spectrum of mutations in the Mediterranean fever gene (MEFV) of Iranian Jews with familial Mediterranean fever (FMF) and to analyse their clinical manifestations.

Methods. FMF patients with both parents of Iranian-Jewish (IJ) extraction or with one IJ parent (IJ–other, 10 of each) were characterized for clinical manifestations, and the B30.2 (PRYSPRY) domain of their MEFV was sequenced for mutations.

Results. Only one rare mutation, R653H, and one new mutation, G632S were present in the IJ group (in 2/10 patients), whereas the new, and common mutations were present in the IJ–other patients (8/10 patients). The new mutation was traced thrice to an IJ ancestor, and although carried asymptomatically by family members, it was over-represented in the patients (3/28 unrelated IJ alleles) compared non-affected IJ subjects (1/126 alleles, P = 0.03) or with non-Jewish Iranians (0/108 alleles, P = 0.001). The mutation was associated with a distinct phenotype regarding sites involved in the attack (P = 0.001), mild severity, sole expression of febrile episodes (P = 0.01) and a male bias (P = 0.01). In two 3D PRYSPRY models the G632S mutation was localized to a surface loop and close to a putative binding site.

Conclusions. Iranian Jews with FMF have a unique spectrum of mutations including a newly described mutation with a non-typical phenotype.

KEY WORDS: Familial Mediterranean fever, Mediterranean fever gene, Pyrin, Mutation, G632S, B30.2 domain, PRYSPRY, Tertiary (3D) structure, Haplotype, Iranian Jew

Submitted 10 December 2006; revised version accepted 13 June 2007.
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