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April 15, 2026Liver International0 citationsOpen Access

Clinical Exome Sequencing in Unexplained Hyperferritinemia Reveals Digenic and Oligogenic Inheritance Beyond Iron Homeostasis

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PMPaul MorelCentre Hospitalier Régional et Universitaire de NancyMRMoses RodriguezFlorida State UniversityCBCyriaque BenmouffekCentre Hospitalier Régional et Universitaire de Nancy

Key Points

  • The aim is to explore the genetic underpinnings of unexplained hyperferritinemia and assess the role of non-HFE genes.
  • Utilized clinical exome sequencing for genetic analysis
  • Focused on cases of unexplained hyperferritinemia
  • Considered non-HFE gene involvement
  • Examined potential digenic and oligogenic inheritance patterns
  • Identified significant heterogeneity in genetic causes
  • Observed frequent involvement of non-HFE genes
  • Found evidence for digenic inheritance patterns beyond mere iron homeostasis

Abstract

CES reveals genetic heterogeneity beyond the traditional Mendelian framework, with frequent non-HFE gene involvement and digenic inheritance and should be considered after exclusion of HFE p.Cys282Tyr homozygosity.

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Cite This Study

Morel et al. (2026) studied this question.

synapsesocial.com/papers/69df2c01e4eeef8a2a6b0ee3https://doi.org/10.1111/liv.70646
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