Journal article
Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population
Rheumatology (Oxford, England), Vol.50(12), pp.2306-2310
12/2011
DOI: 10.1093/rheumatology/ker328
PMID: 22019805
Abstract
Objectives. FMF is characterized by recurrent self-limiting episodes of fever and painful polyserositis. We aimed to study the spectrum and distribution of MEFV mutations in an Algerian patient cohort using a comprehensive mutation detection method. Using the same methodology, we also studied the carrier rate in an unaffected ethnically matched control cohort.
Methods. We recruited 71 unrelated subjects clinically diagnosed with FMF from various clinics in the central region of Algeria. Two hundred and thirty control subjects were recruited as well. Mutation detection in MEFV was performed by re-sequencing the promoter region, the entire coding sequence and all exon-intron boundaries.
Results. We detected eight different mutations located in exons 10 (p.M694I, p.M694V, p.A744S, p.M680I, p.I692Del), 9 (p.I591T), 3 (p.P369S/p.R408Q) and 2 (p.E148Q). Out of the 71 patients, 31 carried at least one mutation. While the 71 patients are expected to have 142 mutant chromosomes, only 50 were identified. p.M694I (17.6%) is the most common mutation, followed by p.M694V (5%), p.E148Q (4.2%), p.A744S (3.5%) and p.M680I (3%). One novel variant was identified in the promoter region in the heterozygous state in three patients and in two controls. The carrier rate of the identifiable mutations is estimated to be 1 : 5.
Conclusion. This study describes the MEFV mutational spectrum and distribution in the Algerian population. It shows that p.M694I is the most common MEFV mutation in Algerians. It also shows that, similar to other Arabic populations, <50% of mutant chromosomes are identified, even when employing comprehensive strategies.
Details
- Title: Subtitle
- Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population
- Creators
- Djouher Ait-Idir - 1Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumediene, Alger, 2Faculté des Sciences, Université M'Hamed Bougara, Boumerdès, Algérie, 3Department of Molecular Genetics, Shafallah Medical Genetics Center, Doha, Qatar and 4Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USAAbdulghani Khilan - 1Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumediene, Alger, 2Faculté des Sciences, Université M'Hamed Bougara, Boumerdès, Algérie, 3Department of Molecular Genetics, Shafallah Medical Genetics Center, Doha, Qatar and 4Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USABahia Djerdjouri - 1Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumediene, Alger, 2Faculté des Sciences, Université M'Hamed Bougara, Boumerdès, Algérie, 3Department of Molecular Genetics, Shafallah Medical Genetics Center, Doha, Qatar and 4Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USAHatem El-Shanti - 1Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumediene, Alger, 2Faculté des Sciences, Université M'Hamed Bougara, Boumerdès, Algérie, 3Department of Molecular Genetics, Shafallah Medical Genetics Center, Doha, Qatar and 4Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA
- Resource Type
- Journal article
- Publication Details
- Rheumatology (Oxford, England), Vol.50(12), pp.2306-2310
- DOI
- 10.1093/rheumatology/ker328
- PMID
- 22019805
- NLM abbreviation
- Rheumatology (Oxford)
- ISSN
- 1462-0324
- eISSN
- 1462-0332
- Publisher
- Oxford University Press
- Language
- English
- Date published
- 12/2011
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093341702771
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