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Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common X-linked enzymopathies caused by G6PD gene variant. The aim of this study was to investigate the molecular epidemiological characteristic of the G6PD deficiency among newborn screening population in Wuhan region. A total o...

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Autores principales: Shen, Shanshan, Xiong, Qian, Cai, Wenqian, Hu, Rui, Zhou, Bin, Hu, Xijiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9533060/
https://www.ncbi.nlm.nih.gov/pubmed/36212142
http://dx.doi.org/10.3389/fgene.2022.994015
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author Shen, Shanshan
Xiong, Qian
Cai, Wenqian
Hu, Rui
Zhou, Bin
Hu, Xijiang
author_facet Shen, Shanshan
Xiong, Qian
Cai, Wenqian
Hu, Rui
Zhou, Bin
Hu, Xijiang
author_sort Shen, Shanshan
collection PubMed
description Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common X-linked enzymopathies caused by G6PD gene variant. The aim of this study was to investigate the molecular epidemiological characteristic of the G6PD deficiency among newborn screening population in Wuhan region. A total of 430,806 healthy neonates in Wuhan area of China were screened for G6PD deficiency from November 2016 to December 2021. The positive samples were further detected with gene analysis. Among the 957 neonates with abnormal G6PD enzyme activity, the prevalence of G6PD deficiency in Wuhan was calculated as 0.22%. 38 genotypes were found and the top 5 frequencies of G6PD gene variants were c.1388G > A, c.1376G > T, c.95A > G, c.1024C > T and c.871G > A. Seven rare single variants (c.25C > T, c.152C > T, c.406C > T, c.497G > A, c.679C > T, c.854G > A and c.1057C > T) and two rare multiple variants (IVS-5 637/638T del/c.1311C > T/1365-13T > C and c.406C > T/c.1311C > T/1365-13T > C) were discovered in this study. In addition, four novel variants (c.49C > T, c.691G > A, c.857A > T and c.982G > A) were detected out in our cohort, which have never been reported before. The result indicated that a rich diversity of G6PD genetic variants in Wuhan region, also had its own regional characteristic. Our data provided the basic knowledge for future prevention and research of G6PD deficiency and the findings will be useful for genetic counseling and prenatal diagnosis of G6PD deficiency in the Wuhan region.
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spelling pubmed-95330602022-10-06 Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants Shen, Shanshan Xiong, Qian Cai, Wenqian Hu, Rui Zhou, Bin Hu, Xijiang Front Genet Genetics Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common X-linked enzymopathies caused by G6PD gene variant. The aim of this study was to investigate the molecular epidemiological characteristic of the G6PD deficiency among newborn screening population in Wuhan region. A total of 430,806 healthy neonates in Wuhan area of China were screened for G6PD deficiency from November 2016 to December 2021. The positive samples were further detected with gene analysis. Among the 957 neonates with abnormal G6PD enzyme activity, the prevalence of G6PD deficiency in Wuhan was calculated as 0.22%. 38 genotypes were found and the top 5 frequencies of G6PD gene variants were c.1388G > A, c.1376G > T, c.95A > G, c.1024C > T and c.871G > A. Seven rare single variants (c.25C > T, c.152C > T, c.406C > T, c.497G > A, c.679C > T, c.854G > A and c.1057C > T) and two rare multiple variants (IVS-5 637/638T del/c.1311C > T/1365-13T > C and c.406C > T/c.1311C > T/1365-13T > C) were discovered in this study. In addition, four novel variants (c.49C > T, c.691G > A, c.857A > T and c.982G > A) were detected out in our cohort, which have never been reported before. The result indicated that a rich diversity of G6PD genetic variants in Wuhan region, also had its own regional characteristic. Our data provided the basic knowledge for future prevention and research of G6PD deficiency and the findings will be useful for genetic counseling and prenatal diagnosis of G6PD deficiency in the Wuhan region. Frontiers Media S.A. 2022-09-21 /pmc/articles/PMC9533060/ /pubmed/36212142 http://dx.doi.org/10.3389/fgene.2022.994015 Text en Copyright © 2022 Shen, Xiong, Cai, Hu, Zhou and Hu. 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
Shen, Shanshan
Xiong, Qian
Cai, Wenqian
Hu, Rui
Zhou, Bin
Hu, Xijiang
Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants
title Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants
title_full Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants
title_fullStr Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants
title_full_unstemmed Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants
title_short Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants
title_sort molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in wuhan: description of four novel variants
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9533060/
https://www.ncbi.nlm.nih.gov/pubmed/36212142
http://dx.doi.org/10.3389/fgene.2022.994015
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