Novel missense mutations affecting the structure of the conserved fibrinogen Bβ C-terminal domain cause congenital hypofibrinogenemia

Bártolo, Raquel; Arbez, Maxime; Vilar, R.; Szántó, Tímea; Lehtinen, Elina; Trillot, Nathalie; Casini, Alessandro; Neerman-Arbez, Marguerite

doi:10.1016/j.thromres.2021.07.013

Cited by 1 publication

(2 citation statements)

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“…Polymorphisms in the FGA / FGB / FGG genes and other genes including HNF4A and IRF1 have been demonstrated to affect plasma fibrinogen levels in genome‐wide association studies (GWAS) 94–96 . Single‐nucleotide polymorphisms in FGA / FGB / FGG as potential phenotype influencers, alongside a pathogenic fibrinogen mutation, have been reported in several families with CFDs 97,98 . These polymorphisms may affect phenotype due to their impact on clot structure, 98,99 and potentially should be taken into account as modifiers when functionally assessing known pathogenic variants in the fibrinogen genes.…”

Section: Genotype–phenotype Correlationsmentioning

confidence: 99%

“…[94][95][96] Single-nucleotide polymorphisms in FGA/FGB/FGG as potential phenotype influencers, alongside a pathogenic fibrinogen mutation, have been reported in several families with CFDs. 97,98 These polymorphisms may affect phenotype due to their impact on clot structure, 98,99 and potentially should be taken into account as modifiers when functionally assessing known pathogenic variants in the fibrinogen genes. Variable expressivity and penetrance of recurrent fibrinogen mutations also likely contributes to the phenotypic heterogeneity.…”

Section: Ge Not Y Pe -Ph E Not Y Pe Cor R E L At Ionsmentioning

confidence: 99%

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

et al. 2023

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SummaryCongenital 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.

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Section: Genotype–phenotype Correlationsmentioning

confidence: 99%