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March 4, 20260 citations

Evaluation of clinical concordance in FMF siblings with identical biallelic exon 10 variants.

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ETEray TunceUniversity of Health ScienceMÖMahmut Seyfeddin ÖzUniversity of Health ScienceSUSıla Atamyıldız UçarUniversity of Health Science

Key Points

  • To evaluate clinical concordance among siblings with identical biallelic exon 10 variants in FMF.
  • Assessment of clinical features in FMF siblings with identical genotypes.
  • Comparison of disease severity scores and prevalence of arthritis.
  • Analysis of factors contributing to differences in clinical presentation.
  • Clinical features were largely concordant among siblings.
  • Differences in disease severity scores were observed.
  • Variation in arthritis prevalence suggests external factors may influence disease expression.

Abstract

This study shows that while main clinical features are largely concordant among siblings with identical genotypes, notable differences in disease severity scores and arthritis prevalence exist. These differences are likely attributable to diagnostic delays and age-related disease evolution rather than intrinsic phenotypic divergence.

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Cite This Study

Tunce et al. (2026) studied this question.

synapsesocial.com/papers/69a7cd7ed48f933b5eed9f0chttps://doi.org/10.1080/00325481.2026.2638010
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