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Pregled bibliografske jedinice broj: 1192842

Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross- sectional study in Croatian adult patients diagnosed with von Willebrand disease


Lapić, Ivana; Radić Antolic, Margareta; Boban, Ana; Coen Herak, Desiree; Rogić, Dunja; Zadro, Renata
Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross- sectional study in Croatian adult patients diagnosed with von Willebrand disease // Croatian medical journal, 63 (2022), 2; 166-175 doi:10.3325/cmj.2022.63.166 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 1192842 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross- sectional study in Croatian adult patients diagnosed with von Willebrand disease

Autori
Lapić, Ivana ; Radić Antolic, Margareta ; Boban, Ana ; Coen Herak, Desiree ; Rogić, Dunja ; Zadro, Renata

Izvornik
Croatian medical journal (0353-9504) 63 (2022), 2; 166-175

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
von Willebrand disease ; next-generation sequencing ; coagulation testing ; mild hemophilia A

Sažetak
Aim: To identify the von Willebrand factor (VWF) gene variant status in Croatian adult patients diagnosed with von Willebrand disease (VWD), provide differential diagnosis of VWD subtypes, and identify patients with mild hemophilia A (HA) who were earlier misdiagnosed as VWD. Methods: Coagulation testing included determination of VWF gain-of-function mutant glycoprotein Ib binding activity (VWF:GPIbM), VWF antigen, VWF collagen-binding activity, and multimeric analysis. Genetic analysis of VWF and FVIII genes was performed with next-generation sequencing (NGS). Results: The study enrolled 50 patients (72% women ; median age 37 years, range 18-75) from 44 unrelated families. Fourteen patients were heterozygous for VWF gene variants compatible with type-1 VWD. Twelve had variants associated with type 2, of whom seven were classified as type 2A, four as type 2B, and one as type 2N. Six type-3 VWD patients were either homozygotes for null variants or combined heterozygotes. Eleven variants within the VWF gene were novel. Three female patients had variants within the FVIII gene, and were re-classified as mild-HA carriers, of whom one had causative novel variants both within VWF and FVIII genes. Fifteen patients remained without a defined genetic cause of their disorder, of whom five had VWF:GPIbM levels below 50%. Conclusion: Croatian adult patients with VWD have considerable genetic heterogeneity. NGS of both VWF and FVIII genes provided accurate differential diagnosis of VWD subtypes and distinction of VWD from mild HA.

Izvorni jezik
Engleski



POVEZANOST RADA


Poveznice na cjeloviti tekst rada:

doi www.cmj.hr

Citiraj ovu publikaciju:

Lapić, Ivana; Radić Antolic, Margareta; Boban, Ana; Coen Herak, Desiree; Rogić, Dunja; Zadro, Renata
Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross- sectional study in Croatian adult patients diagnosed with von Willebrand disease // Croatian medical journal, 63 (2022), 2; 166-175 doi:10.3325/cmj.2022.63.166 (međunarodna recenzija, članak, znanstveni)
Lapić, I., Radić Antolic, M., Boban, A., Coen Herak, D., Rogić, D. & Zadro, R. (2022) Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross- sectional study in Croatian adult patients diagnosed with von Willebrand disease. Croatian medical journal, 63 (2), 166-175 doi:10.3325/cmj.2022.63.166.
@article{article, author = {Lapi\'{c}, Ivana and Radi\'{c} Antolic, Margareta and Boban, Ana and Coen Herak, Desiree and Rogi\'{c}, Dunja and Zadro, Renata}, year = {2022}, pages = {166-175}, DOI = {10.3325/cmj.2022.63.166}, keywords = {von Willebrand disease, next-generation sequencing, coagulation testing, mild hemophilia A}, journal = {Croatian medical journal}, doi = {10.3325/cmj.2022.63.166}, volume = {63}, number = {2}, issn = {0353-9504}, title = {Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross- sectional study in Croatian adult patients diagnosed with von Willebrand disease}, keyword = {von Willebrand disease, next-generation sequencing, coagulation testing, mild hemophilia A} }
@article{article, author = {Lapi\'{c}, Ivana and Radi\'{c} Antolic, Margareta and Boban, Ana and Coen Herak, Desiree and Rogi\'{c}, Dunja and Zadro, Renata}, year = {2022}, pages = {166-175}, DOI = {10.3325/cmj.2022.63.166}, keywords = {von Willebrand disease, next-generation sequencing, coagulation testing, mild hemophilia A}, journal = {Croatian medical journal}, doi = {10.3325/cmj.2022.63.166}, volume = {63}, number = {2}, issn = {0353-9504}, title = {Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross- sectional study in Croatian adult patients diagnosed with von Willebrand disease}, keyword = {von Willebrand disease, next-generation sequencing, coagulation testing, mild hemophilia A} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


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