Differential mutational profiles of familial Mediterranean fever in North Africa

• Published in: Annals of human genetics Vol. 84; no. 6; pp. 423 - 430
• Main Authors: Ait‐Idir, Djouher, Djerdjouri, Bahia
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01.11.2020
• Subjects: Algeria; Alleles; Amyloidosis; Familial Mediterranean fever; Inflammatory diseases; MEFV; Mutants; Mutation; North‐Africa; p.M694I; Population genetics; Pyrin protein; renal AA‐amyloidosis; Algeria; renal AA-amyloidosis; p.M694I; North-Africa; Algeria; familial Mediterranean fever; MEFV
• ISSN: 0003-4800; 1469-1809
• DOI: 10.1111/ahg.12404

Familial Mediterranean fever (FMF) is a recessive autoinflammatory disease, mainly occurring in the eastern Mediterranean. In these populations, the five FMF founder mutations are differently distributed. In Algeria, the FMF‐causing variants remain poorly explored. This retrospective study aims to report the mutational profile of Algerian FMF patients and to compare it with North African FMF patients. One hundred eighty‐three unrelated patients clinically suspected of FMF were recruited from various Algerian hospitals (2007–2015) and tested for mutations in exon 10 of MEFV gene. Molecular analysis identified 144 mutant alleles among 87 of 183 patients (47.5%). p.M694I was the most prevalent pathogenic allele, accounting for 63.2% of mutant alleles, followed by p.M694V and p.M680I occurring with a same frequency (14.5%). Others, p.A744S (6.2%) and p.I692del (1.3%), are less frequent. Interestingly, p.M694I was the most recurrent in patients with renal AA‐amyloidosis. Our results provide the first genetic data on FMF in Algeria, demonstrating the predominance of p.M694I and the absence of p.V726A, compared to other North African countries (Morocco, Tunisia, and Egypt). In conclusion, North African FMF patients display differential mutational profiles that may result from the difference in ethnic origin and the genetic heterogeneity among these populations.