MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
Ahmet Okay CaglayanHakan Gumus

Abstract

Familial Mediterranean fever (FMF) is an autosomal-recessive inherited inflammatory disease caused by mutations in the MEFV gene that encodes pyrin/marenostrin. It is characterized by recurrent short episodes of fever, abdominal pain and serositis affecting mainly Mediterranean and Middle Eastern populations. We determined the frequency of the compound heterozygous mutations which has been rarely reported. The present study not only investigated clinical features of child-onset FMF patients with compound heterozygous mutations but also determined whether there is a phenotype-genotype correlation in the same patient population. The medical records of 66 heterozygous patients with FMF were retrospectively reviewed and assessed. Patients were investigated regarding the mutation type, clinical characteristics at the time of inflammatory attacks such as fever, abdominal pain, arthritis, chest pain, erysipelas-like erythema and oedema, epidemiological data, consanguinity, severity score and family history of FMF and amyloidosis. The most frequent mutation was M694V, identified in 32% of the alleles examined, followed by E148Q in 20.6%, V726A in 17% and M680I in 14.5%, respectively. Consequently, we determined that P369S (n = 10; 8%) ...Continue Reading

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Citations

Oct 22, 2014·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Muzaffer KeklikMustafa Cetin
Jun 27, 2013·The Journal of Obstetrics and Gynaecology Research·Zeynep OcakErtugrul Mevlut Kocaman
Feb 10, 2012·Yonsei Medical Journal·Kyo Yeon KooJin-Sung Lee

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