prikaz prve stranice dokumenta Congenital factor XI deficiency caused by a novel F11 missense variant: a case report
  Download
PDF 274.49 KB
Scientific paper - Original scientific paper
Congenital factor XI deficiency caused by a novel F11 missense variant: a case report
Croatian Medical Journal, 61 (2020), 1; 62-65. https://doi.org/10.3325/cmj.2020.61.62
Gotovac Jerčić, Kristina; Blažeković, Antonela; Hančević, Mirea; Bilić, Ervina; Borovečki, Fran

Institutional repository: Dr Med - University of Zagreb School of Medicine Digital Repository

Cite this document

Gotovac Jerčić, K., Blažeković, A., Hančević, M., Bilić, E. & Borovečki, F. (2020). Congenital factor XI deficiency caused by a novel F11 missense variant: a case report. Croatian Medical Journal, 61. (1), 62-65. doi: 10.3325/cmj.2020.61.62

Gotovac Jerčić, Kristina, et al. "Congenital factor XI deficiency caused by a novel F11 missense variant: a case report." Croatian Medical Journal, vol. 61, no. 1, 2020, pp. 62-65. https://doi.org/10.3325/cmj.2020.61.62

Gotovac Jerčić, Kristina, Antonela Blažeković, Mirea Hančević, Ervina Bilić and Fran Borovečki. "Congenital factor XI deficiency caused by a novel F11 missense variant: a case report." Croatian Medical Journal 61, no. 1 (2020): 62-65. https://doi.org/10.3325/cmj.2020.61.62

Gotovac Jerčić, K., et al. (2020) 'Congenital factor XI deficiency caused by a novel F11 missense variant: a case report', Croatian Medical Journal, 61(1), pp. 62-65. doi: 10.3325/cmj.2020.61.62

Gotovac Jerčić K, Blažeković A, Hančević M, Bilić E, Borovečki F. Congenital factor XI deficiency caused by a novel F11 missense variant: a case report. Croatian Medical Journal [Internet]. 2020 February 29 [cited 2024 November 08];61(1):62-65. doi: 10.3325/cmj.2020.61.62

K. Gotovac Jerčić, A. Blažeković, M. Hančević, E. Bilić and F. Borovečki, "Congenital factor XI deficiency caused by a novel F11 missense variant: a case report", Croatian Medical Journal, vol. 61, no. 1, pp. 62-65, February 2020. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:375828. [Accessed: 08 November 2024]

Metadata
Title (english)Congenital factor XI deficiency caused by a novel F11 missense variant: a case report
AuthorKristina Gotovac Jerčić
AuthorAntonela Blažeković
AuthorMirea Hančević
AuthorErvina Bilić
AuthorFran Borovečki
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Anatomy and Clinical Anatomy)
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Neurology)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Anatomy
Abstract (english)
Hereditary factor XI (FXI) deficiency is a mild bleeding disorder, rare in the general population but relatively common among Ashkenazi Jews. The human F11 gene comprises 15 exons, spanning over 23 kb of the long arm of chromosome 4 (4q35). Homozygotes or compound heterozygotes typically show severe FXI deficiency, whereas heterozygotes show partial or mild deficiency. However, the genotype-phenotype relationship is difficult to establish, even among individuals within the same family. We report on a female patient with a heterozygous variant in F11 and FXI deficiency (49 IU/dL), who suffers from menorrhagia since menarche and easy bruising. She experienced excessive bleeding during thyroidectomy and after a cesarean section. Her younger sister, who carries the same heterozygous variant in F11 and has mild FXI deficiency (47 IU/dL), has menorrhagia without other bleeding difficulties although she has undergone several surgeries. Their father, who carries the same missense variant, has not experienced any bleeding difficulties (but he has not undergone any surgeries either). The family study revealed that the A428C mutation was inherited from the father. This variant has not previously been described in the literature and is the first F11 variant described in the Croatian population. Our study showed that even when family members have the same germline F11 variant, they still may experience phenotypic variability, making disease prognosis more complex.
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleCroatian Medical Journal
Numberingvol. 61, no. 1, pp. 62-65
p-ISSN0353-9504
e-ISSN1332-8166
DOIhttps://doi.org/10.3325/cmj.2020.61.62
URN:NBNurn:nbn:hr:105:375828
Publication2020-02-29
Document URLhttp://www.cmj.hr/2020/61/1/32118380.htm
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) icon
Created on2020-10-29 08:07:48