cDNA sequencing reveals an unexpected splice variation leading to weak KEL2 expression
We identified a novel missense mutation c.139C>T in KEL*02. Although the variant nucleotide locates in the center of exon 3, far away from the exon/intron boundary, it leads to variant splicing of the transcript, resulting in very weak expression of a truncated protein only detectable by adsorption-elution testing.
Authors
- Christine Henny (ORCID: https://orcid.org/0000-0001-9716-5810)
- Bernd Schimanski (ORCID: https://orcid.org/0000-0003-1336-3671)
- Nicole Thornton (ORCID: https://orcid.org/0000-0002-8635-0997)
- Vanja Karamatic Crew (ORCID: https://orcid.org/0000-0003-1412-9107)
- Sofia Lejon Crottet (ORCID: https://orcid.org/0009-0005-9609-3209)
- Rahel Kräuchi
- Christoph Niederhauser
Institutions
- University of Bern (CH)
- NHS Blood and Transplant (GB)
- Swiss Red Cross (CH)
Publication Details
- Journal
- Transfusion
- Published
- 2026-01-20
- DOI
- https://doi.org/10.1111/trf.70069
- Primary Topic
- Complement system in diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00