Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population

Djouher Ait-Idir, Abdulghani Khilan, Bahia Djerdjouri, Hatem El-Shanti

Research output: Contribution to journalArticle

15 Citations (Scopus)

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.

Original languageEnglish
Article numberker328
Pages (from-to)2306-2310
Number of pages5
JournalRheumatology
Volume50
Issue number12
DOIs
Publication statusPublished - Dec 2011

Fingerprint

Familial Mediterranean Fever
Mutation Rate
Mutation
Population
Genes
Genetic Promoter Regions
Exons
Chromosomes
Algeria
Introns
Fever

Keywords

  • Algeria
  • Amyloidosis
  • Autoinflammatory
  • Carrier rate
  • Familial mediterranean fever
  • Mutation

ASJC Scopus subject areas

  • Rheumatology
  • Pharmacology (medical)

Cite this

Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population. / Ait-Idir, Djouher; Khilan, Abdulghani; Djerdjouri, Bahia; El-Shanti, Hatem.

In: Rheumatology, Vol. 50, No. 12, ker328, 12.2011, p. 2306-2310.

Research output: Contribution to journalArticle

Ait-Idir, Djouher ; Khilan, Abdulghani ; Djerdjouri, Bahia ; El-Shanti, Hatem. / Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population. In: Rheumatology. 2011 ; Vol. 50, No. 12. pp. 2306-2310.
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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.",
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