Congenital fibrinogen disorders—Strengthening genotype–phenotype correlations through novel genetic diagnostic tools

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Abstract

Congenital fibrinogen disorders or CFDs are heterogenous, both in clinical manifestation and array of culprit molecular lesions. Correlations between phenotype and genotype remain poorly defined. This review examines the genetic landscape discovered to date for this rare condition. The question of a possible oligogenic model of inheritance influencing phenotypic heterogeneity is raised, with discussion of the benefits and challenges of sequencing technology used to enhance discovery in this space. Considerable work lies ahead in order to achieve diagnostic and prognostic precision and subsequently provide targeted management to this complex cohort of patients.

Original languageEnglish
Pages (from-to)355-368
Number of pages14
JournalBritish Journal of Haematology
Volume203
Issue number3
DOIs
Publication statusPublished - Nov 2023

Keywords

  • afibrinogenemia
  • congenital fibrinogen disorders
  • dysfibrinogenemia
  • genotype-phenotype correlation
  • hypodysfibrinogenemia
  • hypofibrinogenemia
  • nex-generation sequencing

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