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.

中文翻译：

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北非家族性地中海热的差异突变谱

家族性地中海热（FMF）是一种隐性自身炎症性疾病，主要发生在地中海东部。在这些人群中，五个 FMF 创始人突变的分布不同。在阿尔及利亚，引起 FMF 的变异仍然缺乏探索。这项回顾性研究旨在报告阿尔及利亚 FMF 患者的突变谱，并将其与北非 FMF 患者进行比较。从阿尔及利亚各医院（2007-2015 年）招募了 183 名临床疑似 FMF 的无关患者，并测试了 MEFV 基因外显子 10 的突变。分子分析在 183 名患者中的 87 名 (47.5%) 中鉴定出 144 个突变等位基因。p.M694I 是最普遍的致病等位基因，占突变等位基因的 63.2%，其次是 p.M694V 和 p.M680I，发生频率相同（14.5%）。其他，p.A744S (6. 2%) 和 p.I692del (1.3%) 的频率较低。有趣的是，p.M694I 在肾 AA-淀粉样变性患者中复发率最高。我们的结果提供了阿尔及利亚 FMF 的第一个遗传数据，证明了与其他北非国家（摩洛哥、突尼斯和埃及）相比，p.M694I 占优势，而 p.V726A 不存在。总之，北非 FMF 患者表现出不同的突变谱，这可能是由于这些人群的种族起源差异和遗传异质性造成的。