Report of a family with <i>MEFV</i> exon 10 variant and Familial Mediterranean fever and related conditions

DOI
  • Nakama Mina
    Clinical Genetics Center, Gifu University Hospital / Department of Life Science, Faculty of Science and Engineering Kindai University
  • Miwa Yuki
    Department of Pediatrics, Graduate School of Medicine, Gifu University
  • Taguchi Koichiro
    Department of General Internal Medicine, Graduate School of Medicine, Gifu University
  • Morita Hiroyuki
    Department of General Internal Medicine, Graduate School of Medicine, Gifu University
  • Ohnishi Hidenori
    Department of Pediatrics, Graduate School of Medicine, Gifu University

Bibliographic Information

Other Title
  • <i>MEFV</i> exon10バリアントが受け継がれ家族性地中海熱とその関連病態を呈した一家系の報告

Abstract

Familial Mediterranean fever(FMF)is a hereditary autoinflammatory disease characterized by recurrent episodes of fever and serositis. It was inherited in an autosomal recessive mode caused by the MEFV gene, but it can also occur in heterozygotes and the presence of multiple variants of unknown significance(VUS). In addition, that mutation may modify the pathogenesis of other diseases. We report our experience with a family that presented with a variety of pathologies due to a combination of multiple MEFV variants. The cases are a 17-year-old male and a 15-year-old female sibling. Both were putative compound heterozygotes for pathogenic variant M694I(exon 10)and VUS E148Q(exon 2), with the older brother diagnosed typical FMF and the younger sister pre-symptomatic. In other relatives who have M694I, one diagnosed with protracted febrile myalgia syndrome(PFMS)and the others with autoinflammatory disease-like pathology that is atypical for FMF, suggesting clinical heterogeneity in the same family.

Journal

  • JSIAD Journal

    JSIAD Journal 2 (1), 10-14, 2023-02-28

    Japanese Society for Immunodeficiency and Autoinflammatory Diseases

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