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Genotype-phenotype and genotype-origin correlations in children with mediterranean fever in Germany - an AID-net

M Jeske1, P Lohse, T Kallinich

  • 1Pediatric Rheumatology, University Children's Hospital, Essen, Germany.

Klinische Padiatrie
|October 26, 2013
PubMed

Insights

Familial Mediterranean fever (FMF) is a common autoinflammatory disease. In Germany, homozygous p.Met694Val mutations were linked to more severe FMF in children, and current scoring systems showed inconsistency.

Area of Science:

  • Genetics and Molecular Biology
  • Pediatric Rheumatology
  • Immunology

Background:

  • Familial Mediterranean fever (FMF) is the most common inherited autoinflammatory disease (AID).
  • It is caused by mutations in the MEFV gene.
  • Understanding genotype-phenotype correlations and disease severity is crucial for management.

Purpose of the Study:

  • To evaluate the applicability of the Mor- and Pras-Scores for assessing FMF disease severity in children in Germany.
  • To investigate correlations between ethnic origin, phenotype, and genotype in pediatric FMF patients.
  • To identify specific MEFV mutations associated with disease severity.

Main Methods:

  • Analysis of 431 pyrin mutations and 22 sequence variants in 242 children diagnosed with FMF.
  • Utilized Mor- and Pras-Scores, along with C-reactive protein (CRP) levels, to assess disease severity.
  • Examined ethnic origins, focusing on Turkish and Lebanese ancestries.

Main Results:

  • The homozygous p.Met694Val substitution was associated with more severe FMF disease activity (Mor-Score) and higher mean CRP levels.
  • The five most frequent MEFV alterations identified were p.Met694Val, p.Met680Ile, p.Val726Ala, p.Glu148Gln, and p.Met694IIe.
  • The Mor- and Pras-Scores showed inconsistency in assessing disease severity in this pediatric cohort.

Conclusions:

  • Homozygous p.Met694Val substitution is linked to more severe FMF disease activity in the German pediatric cohort.
  • Current FMF severity scoring systems (Mor- and Pras-Scores) demonstrated inconsistency in children.
  • Further research is needed to validate ethnic-specific mutation distributions due to limited sample sizes.

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