Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever

Familial Mediterranean fever (FMF) is an autosomal recessive inherited disease caused by mutations in MEFV. This disease is characterized by recurrent episodes of fever accompanied with topical signs of inflammation. Some patients can develop renal amyloidosis. We prospectively investigated MEFV mut...

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Veröffentlicht in:Comptes rendus. Biologies 2006-02, Vol.329 (2), p.71-74
Hauptverfasser: Belmahi, Latifa, Sefiani, Abdelaziz, Fouveau, Corinne, Feingold, Josué, Delpech, Marc, Grateau, Gilles, Dodé, Catherine
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container_title Comptes rendus. Biologies
container_volume 329
creator Belmahi, Latifa
Sefiani, Abdelaziz
Fouveau, Corinne
Feingold, Josué
Delpech, Marc
Grateau, Gilles
Dodé, Catherine
description Familial Mediterranean fever (FMF) is an autosomal recessive inherited disease caused by mutations in MEFV. This disease is characterized by recurrent episodes of fever accompanied with topical signs of inflammation. Some patients can develop renal amyloidosis. We prospectively investigated MEFV mutations in a cohort of 209 unrelated Arab patients from Maghreb (85 Algerians, 87 Moroccans, and 37 Tunisians) with a clinical suspicion of FMF. FMF is the main cause of periodic fever syndrome in Maghreb. The most frequent MEFV mutations in this cohort were M694V and M694I. These mutations account for different proportions of the MEFV mutations in Algeria (5%, 80%), Morocco (49%, 37%), and Tunisia (50%, 25%) patients. M694I mutation is specific to the Arab population from Maghreb. Other rare mutations were observed: M680L, M680I, A744S, V726A, and E148Q. We estimated the frequency of MEFV mutation carriers among the Arab Maghrebian population at around 1%, which is significantly lower than in non-Ashkenazi Jews, Armenians or Turks. To cite this article: L. Belmahi et al., C. R. Biologies 329 (2006). La fièvre méditerranéenne familiale (FMF) est une maladie génétique autosomique récessive due à des mutations dans MEFV. Cette maladie de l'inflammation est caractérisée, le plus souvent, par des épisodes récurrents de fièvre, accompagnés de douleurs abdominales et articulaires. Nous avons recherché des mutations dans MEFV chez 209 malades Arabes non liés génétiquement et originaires du Maghreb (85 Algériens, 87 Marocains, 37 Tunisiens) ayant un diagnostic clinique de FMF. La FMF est la principale cause de fièvre périodique au Maghreb. Les mutations MEFV les plus fréquentes trouvées dans cette population sont M694V et M694I. Leur fréquence est variable selon les populations en Algérie (5%, 80%), au Maroc (49%, 37%) et en Tunisie (50%, 25%). La mutation M694I est spécifique de la population arabe du Maghreb. D'autres mutations rares ont été trouvées : M680L, M680I, A744S, V726A et E148Q. Nous avons estimé que la fréquence des individus hétérozygotes porteurs de la mutation dans la population normale est de l'ordre de 1%, ce qui est significativement beaucoup plus faible que dans les autres populations à risque pour cette maladie (Juifs non ashkénazes, Arméniens et Turcs). Pour citer cet article : L. Belmahi et al., C. R. Biologies 329 (2006).
doi_str_mv 10.1016/j.crvi.2005.11.005
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This disease is characterized by recurrent episodes of fever accompanied with topical signs of inflammation. Some patients can develop renal amyloidosis. We prospectively investigated MEFV mutations in a cohort of 209 unrelated Arab patients from Maghreb (85 Algerians, 87 Moroccans, and 37 Tunisians) with a clinical suspicion of FMF. FMF is the main cause of periodic fever syndrome in Maghreb. The most frequent MEFV mutations in this cohort were M694V and M694I. These mutations account for different proportions of the MEFV mutations in Algeria (5%, 80%), Morocco (49%, 37%), and Tunisia (50%, 25%) patients. M694I mutation is specific to the Arab population from Maghreb. Other rare mutations were observed: M680L, M680I, A744S, V726A, and E148Q. We estimated the frequency of MEFV mutation carriers among the Arab Maghrebian population at around 1%, which is significantly lower than in non-Ashkenazi Jews, Armenians or Turks. To cite this article: L. Belmahi et al., C. R. Biologies 329 (2006). La fièvre méditerranéenne familiale (FMF) est une maladie génétique autosomique récessive due à des mutations dans MEFV. Cette maladie de l'inflammation est caractérisée, le plus souvent, par des épisodes récurrents de fièvre, accompagnés de douleurs abdominales et articulaires. Nous avons recherché des mutations dans MEFV chez 209 malades Arabes non liés génétiquement et originaires du Maghreb (85 Algériens, 87 Marocains, 37 Tunisiens) ayant un diagnostic clinique de FMF. La FMF est la principale cause de fièvre périodique au Maghreb. Les mutations MEFV les plus fréquentes trouvées dans cette population sont M694V et M694I. Leur fréquence est variable selon les populations en Algérie (5%, 80%), au Maroc (49%, 37%) et en Tunisie (50%, 25%). La mutation M694I est spécifique de la population arabe du Maghreb. D'autres mutations rares ont été trouvées : M680L, M680I, A744S, V726A et E148Q. Nous avons estimé que la fréquence des individus hétérozygotes porteurs de la mutation dans la population normale est de l'ordre de 1%, ce qui est significativement beaucoup plus faible que dans les autres populations à risque pour cette maladie (Juifs non ashkénazes, Arméniens et Turcs). Pour citer cet article : L. Belmahi et al., C. R. 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Biologies</title><addtitle>C R Biol</addtitle><description>Familial Mediterranean fever (FMF) is an autosomal recessive inherited disease caused by mutations in MEFV. This disease is characterized by recurrent episodes of fever accompanied with topical signs of inflammation. Some patients can develop renal amyloidosis. We prospectively investigated MEFV mutations in a cohort of 209 unrelated Arab patients from Maghreb (85 Algerians, 87 Moroccans, and 37 Tunisians) with a clinical suspicion of FMF. FMF is the main cause of periodic fever syndrome in Maghreb. The most frequent MEFV mutations in this cohort were M694V and M694I. These mutations account for different proportions of the MEFV mutations in Algeria (5%, 80%), Morocco (49%, 37%), and Tunisia (50%, 25%) patients. M694I mutation is specific to the Arab population from Maghreb. Other rare mutations were observed: M680L, M680I, A744S, V726A, and E148Q. We estimated the frequency of MEFV mutation carriers among the Arab Maghrebian population at around 1%, which is significantly lower than in non-Ashkenazi Jews, Armenians or Turks. To cite this article: L. Belmahi et al., C. R. Biologies 329 (2006). La fièvre méditerranéenne familiale (FMF) est une maladie génétique autosomique récessive due à des mutations dans MEFV. Cette maladie de l'inflammation est caractérisée, le plus souvent, par des épisodes récurrents de fièvre, accompagnés de douleurs abdominales et articulaires. Nous avons recherché des mutations dans MEFV chez 209 malades Arabes non liés génétiquement et originaires du Maghreb (85 Algériens, 87 Marocains, 37 Tunisiens) ayant un diagnostic clinique de FMF. La FMF est la principale cause de fièvre périodique au Maghreb. Les mutations MEFV les plus fréquentes trouvées dans cette population sont M694V et M694I. Leur fréquence est variable selon les populations en Algérie (5%, 80%), au Maroc (49%, 37%) et en Tunisie (50%, 25%). La mutation M694I est spécifique de la population arabe du Maghreb. D'autres mutations rares ont été trouvées : M680L, M680I, A744S, V726A et E148Q. Nous avons estimé que la fréquence des individus hétérozygotes porteurs de la mutation dans la population normale est de l'ordre de 1%, ce qui est significativement beaucoup plus faible que dans les autres populations à risque pour cette maladie (Juifs non ashkénazes, Arméniens et Turcs). Pour citer cet article : L. Belmahi et al., C. R. 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Biologies</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Belmahi, Latifa</au><au>Sefiani, Abdelaziz</au><au>Fouveau, Corinne</au><au>Feingold, Josué</au><au>Delpech, Marc</au><au>Grateau, Gilles</au><au>Dodé, Catherine</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever</atitle><jtitle>Comptes rendus. Biologies</jtitle><addtitle>C R Biol</addtitle><date>2006-02-01</date><risdate>2006</risdate><volume>329</volume><issue>2</issue><spage>71</spage><epage>74</epage><pages>71-74</pages><issn>1631-0691</issn><issn>1768-3238</issn><eissn>1768-3238</eissn><abstract>Familial Mediterranean fever (FMF) is an autosomal recessive inherited disease caused by mutations in MEFV. This disease is characterized by recurrent episodes of fever accompanied with topical signs of inflammation. Some patients can develop renal amyloidosis. We prospectively investigated MEFV mutations in a cohort of 209 unrelated Arab patients from Maghreb (85 Algerians, 87 Moroccans, and 37 Tunisians) with a clinical suspicion of FMF. FMF is the main cause of periodic fever syndrome in Maghreb. The most frequent MEFV mutations in this cohort were M694V and M694I. These mutations account for different proportions of the MEFV mutations in Algeria (5%, 80%), Morocco (49%, 37%), and Tunisia (50%, 25%) patients. M694I mutation is specific to the Arab population from Maghreb. Other rare mutations were observed: M680L, M680I, A744S, V726A, and E148Q. We estimated the frequency of MEFV mutation carriers among the Arab Maghrebian population at around 1%, which is significantly lower than in non-Ashkenazi Jews, Armenians or Turks. To cite this article: L. Belmahi et al., C. R. Biologies 329 (2006). La fièvre méditerranéenne familiale (FMF) est une maladie génétique autosomique récessive due à des mutations dans MEFV. Cette maladie de l'inflammation est caractérisée, le plus souvent, par des épisodes récurrents de fièvre, accompagnés de douleurs abdominales et articulaires. Nous avons recherché des mutations dans MEFV chez 209 malades Arabes non liés génétiquement et originaires du Maghreb (85 Algériens, 87 Marocains, 37 Tunisiens) ayant un diagnostic clinique de FMF. La FMF est la principale cause de fièvre périodique au Maghreb. Les mutations MEFV les plus fréquentes trouvées dans cette population sont M694V et M694I. Leur fréquence est variable selon les populations en Algérie (5%, 80%), au Maroc (49%, 37%) et en Tunisie (50%, 25%). La mutation M694I est spécifique de la population arabe du Maghreb. D'autres mutations rares ont été trouvées : M680L, M680I, A744S, V726A et E148Q. Nous avons estimé que la fréquence des individus hétérozygotes porteurs de la mutation dans la population normale est de l'ordre de 1%, ce qui est significativement beaucoup plus faible que dans les autres populations à risque pour cette maladie (Juifs non ashkénazes, Arméniens et Turcs). Pour citer cet article : L. Belmahi et al., C. R. Biologies 329 (2006).</abstract><cop>Paris</cop><pub>Elsevier SAS</pub><pmid>16439335</pmid><doi>10.1016/j.crvi.2005.11.005</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record>
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subjects Algeria - epidemiology
Arabs - genetics
Arabs - statistics & numerical data
Biological and medical sciences
Cohort Studies
Cytoskeletal Proteins - genetics
Diseases of the osteoarticular system
Exons - genetics
Familial Mediterranean Fever
Familial Mediterranean Fever - epidemiology
Familial Mediterranean Fever - genetics
Fièvre méditerranéenne familiale
Gene Frequency
Humans
Inflammatory joint diseases
Inherited inflammatory disorder
Medical sciences
Morocco - epidemiology
Pyrin
Pyrin/Marenostrin
Pyrine/Marénostrine
Reverse Transcriptase Polymerase Chain Reaction
Syndrome inflammatoire d'origine génétique
Tunisia - epidemiology
title Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever
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