Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF) (original) (raw)

• Original Paper
• Published: 12 March 1998
• Cécile Domingo1,
• Michel Rozenbaum2,
• Eldad Ben-Chétrit3,
• Daniel Cattan4,
• Alain Bernot5,
• Christiane Dross1,
• Madeleine Dupont1,
• Cécile Notarnicola1,
• Micha Levy3,
• Itzhak Rosner2,
• Jacques Demaille1 &
• …
• Isabelle Touitou1

European Journal of Human Genetics volume 6, pages 95–97 (1998)Cite this article

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Abstract

Familial Mediterranean Fever is one of the most frequent recessive disease in non-Ashkenazi Jews. The gene responsible for the disease (MEFV) has very recently been identified. The M694V (‘MED’) mutation was found in about 80% of the FMF Jewish (Iraqi and North African) chromosomes. To see if the presence of this mutation could be correlated with particular traits of the disease, we examined a number of clinical features in a panel of 109 Jewish FMF patients with 0, 1 or 2 MED mutations. We showed that homozygosity for this mutation was significantly associated with a more severe form of the disease. In homozygous patients, the disease started earlier (mean age 6.4 +/− 5 vs 13.6 +/− 8.9) and both arthritis and pleuritis were twice as frequent as in patients with one or no M694V mutation. Moreover, 3/3 patients with amyloidosis displayed two MED mutations. No association was found with fever, peritonitis, response to colchicine and erysipeloid eruption. The present result strongly suggests the potential prognostic value of the presence of this mutation.

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Authors and Affiliations

1. Hôpital A de Villeneuve, Montpellier, France
   Marie Dewalle, Cécile Domingo, Christiane Dross, Madeleine Dupont, Cécile Notarnicola, Jacques Demaille & Isabelle Touitou
2. Bnai Zion Medical Center, Haifa, Israel
   Michel Rozenbaum & Itzhak Rosner
3. Hadassah Hospital, Jerusalem, Israel
   Eldad Ben-Chétrit & Micha Levy
4. Hôpital de Villeneuve Saint Georges, France
   Daniel Cattan
5. CNS, Evry, France
   Alain Bernot

Authors

1. Marie Dewalle
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2. Cécile Domingo
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3. Michel Rozenbaum
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4. Eldad Ben-Chétrit
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5. Daniel Cattan
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6. Alain Bernot
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7. Christiane Dross
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8. Madeleine Dupont
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9. Cécile Notarnicola
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10. Micha Levy
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11. Itzhak Rosner
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12. Jacques Demaille
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13. Isabelle Touitou
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Corresponding author

Correspondence toIsabelle Touitou.

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Dewalle, M., Domingo, C., Rozenbaum, M. et al. Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).Eur J Hum Genet 6, 95–97 (1998). https://doi.org/10.1038/sj.ejhg.5200170

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• Received: 05 September 1997
• Revised: 05 November 1997
• Accepted: 18 November 1997
• Published: 12 March 1998
• Issue Date: 01 January 1998
• DOI: https://doi.org/10.1038/sj.ejhg.5200170

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