Congenital factor XI deficiency caused by a novel F11 missense variant: a case report

Scientific paper - Original scientific paper

• Author: Kristina Gotovac Jerčić
• Author: Antonela Blažeković
• Author: Mirea Hančević
• Author: Ervina Bilić
• Author: Fran Borovečki
• Author's institution: University of Zagreb; School of Medicine; (Department of Anatomy and Clinical Anatomy)
• Author's institution: University 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.

• Language: english
• Publication type: Scientific paper - Original scientific paper
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Croatian Medical Journal
• Numbering: vol. 61, no. 1, pp. 62-65
• p-ISSN: 0353-9504
• e-ISSN: 1332-8166
• DOI: https://doi.org/10.3325/cmj.2020.61.62
• URN:NBN: urn:nbn:hr:105:375828
• Publication: 2020-02-29
• Document URL: http://www.cmj.hr/2020/61/1/32118380.htm
• Type of resource: Text
• Access conditions: Open access
• Created on: 2020-10-29 08:07:48