Phenotype–genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis (original) (raw)

• Article
• Published: 05 May 1999
• N Magal1,
• T Shohat1,
• X Chen2,
• T Dagan1,
• A Mimouni1,
• Y Danon3,
• R Lotan1,
• G Ogur4,
• A Sirin5,
• M Schlezinger6,
• GJ Halpern1,
• A Schwabe2,
• D Kastner7,
• JI Rotter2 &
• …
• N Fischel-Ghodsian2

European Journal of Human Genetics volume 7, pages 287–292 (1999)Cite this article

Abstract

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterised by recurrent attacks of inflammation of serosal membranes. Amyloidosis is the most severe complication of the disease. The aim of this study was to investigate the genotype–phenotype correlation and specifically the association between amyloidosis and the four common mutations in exon 10 of the gene causing FMF (MEFV) in a total of 83 FMF families from three ethnic groups: North African Jews, Armenians and Turks. A significant association was found between amyloidosis and the specific mutation at the MEFV gene: Met694Val (RR = 1.41, P = 0.02). Amyloidosis was present in 18 out of 87 homozygous FMF patients (20.7%) and in only two out of the 41 compound heterozygous FMF patients (4.9%). No patients carrying other mutations had amyloidosis. There was no significant association between the various mutations and the type or severity of the FMF symptoms. This finding underscores the importance of performing molecular studies on all suspect FMF patients. In addition to providing accurate diagnosis, these tests allow identification of presymptomatic genetically affected individuals, detection of carriers and assessment of the risk for amyloidosis in later life.

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Authors and Affiliations

1. Department of Medical Genetics, FMRC and Beilinson Campus, Rabin Medical Center and Sackler School of Medicine, Tel Aviv University, Israel
   M Shohat, N Magal, T Shohat, T Dagan, A Mimouni, R Lotan & GJ Halpern
2. Medical Genetics Birth Defects Center, Cedars-Sinai Medical Center and UCLA, Los Angeles, CA, USA
   X Chen, A Schwabe, JI Rotter & N Fischel-Ghodsian
3. Department of Immunology, FMRC and Beilinson Campus, Rabin Medical Center and Sackler School of Medicine, Tel Aviv University, Israel
   Y Danon
4. Gata Medical Center and Immunology Department, Medical Genetics, Ankara University Medical Faculty, Ankara
   G Ogur
5. Pediatric Nephrology, Istanbul Medical Faculty, University of Istanbul, Turkey
   A Sirin
6. Immunology Unit, Barzilai Medical Center, Ashkelon, Israel
   M Schlezinger
7. Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA
   D Kastner

Authors

1. M Shohat
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2. N Magal
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3. T Shohat
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4. X Chen
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5. T Dagan
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6. A Mimouni
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7. Y Danon
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8. R Lotan
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9. G Ogur
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10. A Sirin
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11. M Schlezinger
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12. GJ Halpern
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13. A Schwabe
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14. D Kastner
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15. JI Rotter
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16. N Fischel-Ghodsian
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Corresponding author

Correspondence toM Shohat.

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Shohat, M., Magal, N., Shohat, T. et al. Phenotype–genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.Eur J Hum Genet 7, 287–292 (1999). https://doi.org/10.1038/sj.ejhg.5200303

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• Received: 20 August 1998
• Revised: 28 October 1998
• Accepted: 11 November 1998
• Published: 05 May 1999
• Issue Date: 01 April 1999
• DOI: https://doi.org/10.1038/sj.ejhg.5200303

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