In:
Hämostaseologie, Georg Thieme Verlag KG, Vol. 43, No. 06 ( 2023-12), p. 426-431
Abstract:
Objective Our study aimed to analyze the phenotype and genotype of a pedigree with inherited dysfibrinogenemia, and preliminarily elucidate the probable pathogenesis. Methods The one-stage clotting method was used to test the fibrinogen activity (FIB:C), whereas immunoturbidimetry was performed to quantify the fibrinogen antigen (FIB:Ag). Furthermore, DNA sequence analysis was conducted to confirm the site of mutation. Conservation analysis and protein model analysis were performed using online bioinformatics software. Results The FIB:C and FIB:Ag of the proband were 1.28 and 2.20 g/L, respectively. Gene analysis revealed a heterozygous c.293C 〉 A (p.BβAla68Asp) mutation in FGB. Bioinformatics and modeling analysis suggested that the missense mutation could potentially have a deleterious effect on fibrinogen. Conclusion The BβAla68Asp mutation in exon 2 of FGB may account for the reduced FIB:C levels observed in the pedigree. To our knowledge, this point mutation is the first report in the world.
Type of Medium:
Online Resource
ISSN:
0720-9355
,
2567-5761
Language:
English
Publisher:
Georg Thieme Verlag KG
Publication Date:
2023
detail.hit.zdb_id:
801512-0
detail.hit.zdb_id:
2030152-2
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