A Review of the Literature Organized Into a New Database: RHeference

Floch, Aline; Téletchéa, Stéphane; Tournamille, Christophe; Brevern, Alexandre G. de

doi:10.1016/j.tmrv.2021.04.002

Cited by 10 publications

(19 citation statements)

References 56 publications

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“…Of those, missense SNVs, which induce the substitution of amino acids, are the most common. [1][2][3][4] Change in the lateral chain of the amino acid of interest is thought to disrupt protein expression at the membrane of RBCs, resulting in a variant phenotype. 12 In the past years, another mechanism that has gained interest is splicing, which is also due to SNVs.…”

Section: Discussionmentioning

confidence: 99%

“…In the RH blood group genes, hundreds of SNVs have been reported to date. Of those, missense SNVs, which induce the substitution of amino acids, are the most common 1–4 . Change in the lateral chain of the amino acid of interest is thought to disrupt protein expression at the membrane of RBCs, resulting in a variant phenotype 12 .…”

Section: Discussionmentioning

confidence: 99%

“…In the RH blood group system, hundreds of variant alleles involving various molecular mechanisms, including single nucleotide variants (SNVs) and structural variants (SVs), have been reported and have enriched the molecular catalogue of RH polymorphism. [1][2][3][4] In the present work, we investigate the RHCE gene in a pregnant woman, report our findings and briefly discuss how functional studies may guide the management of the patient.…”

Section: Introductionmentioning

confidence: 99%

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The novel c.634+4A>G splicing variant inRHCEresults in weak C and e antigen expression in a pregnant woman originated from Japan

et al. 2022

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Background: In the RH blood group genes, molecular variants that alter antigen expression with potential clinical relevance are frequently identified and reported in the literature. Study Design and Methods: A pregnant woman in her first pregnancy, who originates from Japan, was typed by routine serological testing. The RHCE gene was investigated to identify single nucleotide variants (SNVs) and/or structural variants by a commercial platform, Sanger sequencing, and quantitative multiplex PCR of short fluorescent fragments. The haplotypes were determined by sequencing PCR fragments generated from genomic DNA and subcloned into a plasmid vector. Effect on splicing was predicted by bioinformatics tools, including SpliceAI and the splicing module of Alamut. In parallel, functional analysis was carried out by a minigene splicing assay. Results: A patient with no transfusion history was typed RH:1,2w,3,4,5w. An unreported single variant was identified in RHCE intron 4 at the heterozygous state: c.634+4A>G. Minigene splicing assay showed that this SNV decreases significantly the relative abundance of the full-length transcript, in accordance with the predictions made by the Alamut tools, but not SpliceAI, suggesting expression of a normal RhCE protein. Conclusion:Overall, the novel RHCE*02(c.634+4A>G) allele alters quantitatively, but not qualitatively, the expression of C and e in the RH blood group system, indicating that the patient is not at risk for alloimmunization and may safely receive C+e+ red blood cell units. This report illustrates the relevance of functional assays for the interpretation of rare variants and, specifically, how it may help guide transfusion management in patients.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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The novel c.634+4A>G splicing variant inRHCEresults in weak C and e antigen expression in a pregnant woman originated from Japan

et al. 2022

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“…The D (RH1) antigen is a major antigen in immunohematology, both from a transfusion point of view due to its immunogenicity and polymorphism, but also from an obstetrical point of view. It may be responsible for hemolytic transfusion reactions and hemolytic disease of the fetus and newborn 1,2 …”

Section: Introductionmentioning

confidence: 99%

“…It may be responsible for hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. 1,2 We investigated the sample of a 17-year-old French female of Congolese ancestry, hospitalized for an otolaryngology intervention, with no known history of transfusion or pregnancies.…”

Section: Introductionmentioning

confidence: 99%