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A case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene: A case report

McLeod syndrome is a rare XK gene-related progressive, debilitating disease involving multiple systems. The blood group phenotypes in McLeod syndrome patients usually display the Kx antigen loss and a decrease in the Kell blood group system antigen expression. This paper describes a 41-year-old male...

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Autores principales: Ying, Yanling, Yu, Shifang, Zhang, Jingjing, He, Ji, Xu, Xianguo, Hong, Xiaozhen, Zhu, Faming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9929429/
https://www.ncbi.nlm.nih.gov/pubmed/36816020
http://dx.doi.org/10.3389/fgene.2023.1073139
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author Ying, Yanling
Yu, Shifang
Zhang, Jingjing
He, Ji
Xu, Xianguo
Hong, Xiaozhen
Zhu, Faming
author_facet Ying, Yanling
Yu, Shifang
Zhang, Jingjing
He, Ji
Xu, Xianguo
Hong, Xiaozhen
Zhu, Faming
author_sort Ying, Yanling
collection PubMed
description McLeod syndrome is a rare XK gene-related progressive, debilitating disease involving multiple systems. The blood group phenotypes in McLeod syndrome patients usually display the Kx antigen loss and a decrease in the Kell blood group system antigen expression. This paper describes a 41-year-old male Chinese patient with McLeod syndrome. He first attended a hospital in 2015 and developed progressively worsening symptoms 4 years ago. As the disease progressed, the patient exhibited memory loss, unresponsiveness, and chorea and displayed elevated creatine kinase levels. However, McLeod syndrome could not be diagnosed by these signs and laboratory results. The patient was readmitted to the hospital in 2020 and was suspected of having McLeod syndrome. Serological analysis of the Kell blood group system and genotyping for the XK blood group system were performed, revealing the weak expression of the K antigen and the negative K antigen. Sequencing of the coding region of the XK gene showed a hemizygous c.942G>A variation in the XK gene, which resulted in a premature stop codon at position 314 (p.Trp314Ter). Therefore, the patient was diagnosed with McLeod syndrome. In conclusion, this paper presents a case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene. The analysis of the XK gene and blood group antigen is helpful for the diagnosis of McLeod syndrome and for distinguishing it from many other diseases.
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spelling pubmed-99294292023-02-16 A case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene: A case report Ying, Yanling Yu, Shifang Zhang, Jingjing He, Ji Xu, Xianguo Hong, Xiaozhen Zhu, Faming Front Genet Genetics McLeod syndrome is a rare XK gene-related progressive, debilitating disease involving multiple systems. The blood group phenotypes in McLeod syndrome patients usually display the Kx antigen loss and a decrease in the Kell blood group system antigen expression. This paper describes a 41-year-old male Chinese patient with McLeod syndrome. He first attended a hospital in 2015 and developed progressively worsening symptoms 4 years ago. As the disease progressed, the patient exhibited memory loss, unresponsiveness, and chorea and displayed elevated creatine kinase levels. However, McLeod syndrome could not be diagnosed by these signs and laboratory results. The patient was readmitted to the hospital in 2020 and was suspected of having McLeod syndrome. Serological analysis of the Kell blood group system and genotyping for the XK blood group system were performed, revealing the weak expression of the K antigen and the negative K antigen. Sequencing of the coding region of the XK gene showed a hemizygous c.942G>A variation in the XK gene, which resulted in a premature stop codon at position 314 (p.Trp314Ter). Therefore, the patient was diagnosed with McLeod syndrome. In conclusion, this paper presents a case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene. The analysis of the XK gene and blood group antigen is helpful for the diagnosis of McLeod syndrome and for distinguishing it from many other diseases. Frontiers Media S.A. 2023-02-01 /pmc/articles/PMC9929429/ /pubmed/36816020 http://dx.doi.org/10.3389/fgene.2023.1073139 Text en Copyright © 2023 Ying, Yu, Zhang, He, Xu, Hong and Zhu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Ying, Yanling
Yu, Shifang
Zhang, Jingjing
He, Ji
Xu, Xianguo
Hong, Xiaozhen
Zhu, Faming
A case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene: A case report
title A case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene: A case report
title_full A case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene: A case report
title_fullStr A case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene: A case report
title_full_unstemmed A case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene: A case report
title_short A case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene: A case report
title_sort case of mcleod syndrome caused by a nonsense variation c.942g>a in the xk gene: a case report
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9929429/
https://www.ncbi.nlm.nih.gov/pubmed/36816020
http://dx.doi.org/10.3389/fgene.2023.1073139
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