A novel KEL silencing allele in a Brazilian patient with anti‐Ku

Brunetta, Denise Menezes; Carlos, Luciana M.B.; Costa, Tiê B.; Silva, Vilany F.P.; Oliveira, Patrícia N.; Gazito, Diana; Arnoni, Carine Prisco; Castilho, Lilian

doi:10.1111/trf.13933

Cited by 3 publications

(4 citation statements)

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“…However, identification of KEL*02N.17 was unexpected, as this allele has previously been identified in Germany, Peru, and Taiwan, and the description of this allele in individuals of African descent is novel 15 . The KEL*02N alleles KEL*02N.31 (IVS16+1g>a), KEL*02N.30 (c.71G>A), and KEL*02N.41 (c.267C>G) were recently associated with three Brazilians with a K 0 phenotype 49,50 . Interestingly, these alleles were not found among the studied individuals.…”

Section: Discussionmentioning

confidence: 98%

Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program

et al. 2020

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Background Genetic variants in the SLC14A1, ACKR1, and KEL genes, which encode Kidd, Duffy, and Kell red blood cell antigens, respectively, may result in weakened expression of antigens or a null phenotype. These variants are of particular interest to individuals with sickle cell disease (SCD), who frequently undergo chronic transfusion therapy with antigen‐matched units. The goal was to describe the diversity and the frequency of variants in SLC14A1, ACKR1, and KEL genes among individuals with SCD using whole genome sequencing (WGS) data. Study Design and Methods Two large SCD cohorts were studied: the Recipient Epidemiology and Donor Evaluation Study III (REDS‐III) (n = 2634) and the Outcome Modifying Gene in SCD (OMG) (n = 640). Most of the studied individuals were of mixed origin. WGS was performed as part of the National Heart, Lung, and Blood Institute's Trans‐Omics for Precision Medicine (TOPMed) program. Results In SLC14A1, variants included four encoding a weak Jka phenotype and five null alleles (JKnull). JKA*01N.09 was the most common JKnull. One possible JKnull mutation was novel: c.812G>T. In ACKR1, identified variants included two that predicted Fyx (FY*X) and one corresponding to the c.‐67T>C GATA mutation. The c.‐67T>C mutation was associated with FY*A (FY*01N.01) in four participants. FY*X was identified in 49 individuals. In KEL, identified variants included three null alleles (KEL*02N.17, KEL*02N.26, and KEL*02N.04) and one allele predicting Kmod phenotype, all in heterozygosity. Conclusions We described the diversity and distribution of SLC14A1, ACKR1, and KEL variants in two large SCD cohorts, comprising mostly individuals of mixed ancestry. This information may be useful for planning the transfusion support of patients with SCD.

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Section: Discussionmentioning

confidence: 98%

Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program

et al. 2020

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“…Inactivating mutations occurring in the KEL gene, which encodes Kell antigens, may cause Kell null (K 0 ) phenotype characterized by a lack of Kell antigen expression on red blood cells (RBCs) 2 . K 0 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.…”

Section: Introductionmentioning

confidence: 99%

“…2 K 0 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. For this reason, her sample was subjected to whole exome sequencing (WES).…”

Section: Introductionmentioning

confidence: 99%

A novel KEL c.1414‐1G>T allele in a polish patient with anti‐Ku antibody

et al. 2022

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“…The Kell glycoprotein is encoded by the KEL gene, which consists of 19 exons spanning over 20 kb . The KEL gene is very polymorphic, and more than 40 different KEL silencing alleles with nonsense mutations, missense mutations or splice site mutations have been reported . The majority of these silent KEL alleles have the KEL*02 background, and in the Japanese population, a woman with anti‐Ku and a compound heterozygote for KEL*02N.08 and KEL*02N.09 has been reported .…”

Section: Introductionmentioning

confidence: 99%