1. A novel KEL c.1414-1G>T allele in a polish patient with anti-Ku antibody.
- Author
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Pelc‐Kłopotowska, Monika, Płoski, Rafał, Szczałuba, Krzysztof, Szymańska, Krystyna, Rydzanicz, Małgorzata, Purchla‐Szepioła, Sylwia, Kolasińska, Katarzyna, Lewicka, Małgorzata, Thornton, Nicole, Crew, Vanja Karamatic, Orzińska, Agnieszka, Guz, Katarzyna, Pelc-Kłopotowska, Monika, and Purchla-Szepioła, Sylwia
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ALLELES ,PROTEOLYTIC enzymes ,MEMBRANE glycoproteins ,BLOOD groups ,RESEARCH funding ,PHENOTYPES - Abstract
WES analysis focused on I KEL i exons with flanking intron regions showed one homozygous change in intron 12, hg38, chr7:g.142944401-C>A, NM 000420.3: I c.1414-1G>T i (shown in Figure 1S) confirmed by Sanger sequencing of I KEL i exons 12-13. Alloantibodies against Kell antigens from the Kell blood group system (ISBT 006) can lead to transfusion reactions and hemolytic disease of fetus and newborn.1 Inactivating mutations occurring in the I KEL i gene, which encodes Kell antigens, may cause Kell null (K SB 0 sb ) phenotype characterized by a lack of Kell antigen expression on red blood cells (RBCs).2 K SB 0 sb individuals are identified through the detection of clinically significant anti-Ku antibody in their plasma as well as by screening donors.3,4 Here, we present a case of a 9-year-old girl diagnosed with congenital cerebellar hypoplasia and familial encephalopathy of unknown etiology. Pre-transfusion antibody screening was positive with all panel RBCs, except the patient's own. [Extracted from the article]
- Published
- 2022
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