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Five novel globin gene mutations identified in five Chinese families by next‐generation sequencing

BACKGROUND: Thalassemia is one of the most common inherited diseases worldwide. This report presents three novel cases of α‐thalassemia and two novel cases of β‐thalassemia caused by five different mutations in the globin gene. METHODS: Next‐generation sequencing (NGS) was used to identify novel α‐...

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Autores principales: Zhang, Jie, Xie, Meijuan, Peng, Zhiyu, Zhou, Xiaoyan, Zhao, Tingting, Jin, Chanchan, Yan, Yuanlong, Zeng, Xiaohong, Li, Dongmei, Zhang, Yangjia, Su, Jie, Feng, Na, He, Jing, Yao, Xiangmei, Lv, Tao, Zhu, Baosheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683637/
https://www.ncbi.nlm.nih.gov/pubmed/34708592
http://dx.doi.org/10.1002/mgg3.1835
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author Zhang, Jie
Xie, Meijuan
Peng, Zhiyu
Zhou, Xiaoyan
Zhao, Tingting
Jin, Chanchan
Yan, Yuanlong
Zeng, Xiaohong
Li, Dongmei
Zhang, Yangjia
Su, Jie
Feng, Na
He, Jing
Yao, Xiangmei
Lv, Tao
Zhu, Baosheng
author_facet Zhang, Jie
Xie, Meijuan
Peng, Zhiyu
Zhou, Xiaoyan
Zhao, Tingting
Jin, Chanchan
Yan, Yuanlong
Zeng, Xiaohong
Li, Dongmei
Zhang, Yangjia
Su, Jie
Feng, Na
He, Jing
Yao, Xiangmei
Lv, Tao
Zhu, Baosheng
author_sort Zhang, Jie
collection PubMed
description BACKGROUND: Thalassemia is one of the most common inherited diseases worldwide. This report presents three novel cases of α‐thalassemia and two novel cases of β‐thalassemia caused by five different mutations in the globin gene. METHODS: Next‐generation sequencing (NGS) was used to identify novel α‐ and β‐thalassemia in five individuals, which was confirmed by Sanger sequencing of the globin gene. Hematological parameters were determined by an automated cell counter, and hemoglobin electrophoresis was carried out by a capillary electrophoresis system, respectively. The isoelectric point (pI), molecular weight, and conservation for the mutations were described by the Internet software programs. The pathogenicity for globin mutations was analyzed by bioinformatics analysis and relative quantitative analysis. RESULTS: NGS revealed five novel cases of α‐ and β‐thalassemia: HBA2:c.245C>T, HBA2:c.95+11_95+34delCTCCCCTGCTCCGACCCGGGCTCC, HBA2:c.54delC, HBB:c.373C>A, and HBB:c.40G>A. The clinical implications of these mutations were described. Computational predictions were made for pI, amino acid conservation, and pathogenicity of the missense mutation. Relative quantitative data of the α‐globin mRNA were analyzed. CONCLUSION: Five novel globin mutations were identified in the populations of China, and those mutations were analyzed to provide a mechanistic view for their pathogenicity. These analyzed results improve genetic diagnostics for thalassemia, which can improve screening programs for thalassemia and prenatal diagnosis for Chinese population.
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spelling pubmed-86836372021-12-30 Five novel globin gene mutations identified in five Chinese families by next‐generation sequencing Zhang, Jie Xie, Meijuan Peng, Zhiyu Zhou, Xiaoyan Zhao, Tingting Jin, Chanchan Yan, Yuanlong Zeng, Xiaohong Li, Dongmei Zhang, Yangjia Su, Jie Feng, Na He, Jing Yao, Xiangmei Lv, Tao Zhu, Baosheng Mol Genet Genomic Med Original Articles BACKGROUND: Thalassemia is one of the most common inherited diseases worldwide. This report presents three novel cases of α‐thalassemia and two novel cases of β‐thalassemia caused by five different mutations in the globin gene. METHODS: Next‐generation sequencing (NGS) was used to identify novel α‐ and β‐thalassemia in five individuals, which was confirmed by Sanger sequencing of the globin gene. Hematological parameters were determined by an automated cell counter, and hemoglobin electrophoresis was carried out by a capillary electrophoresis system, respectively. The isoelectric point (pI), molecular weight, and conservation for the mutations were described by the Internet software programs. The pathogenicity for globin mutations was analyzed by bioinformatics analysis and relative quantitative analysis. RESULTS: NGS revealed five novel cases of α‐ and β‐thalassemia: HBA2:c.245C>T, HBA2:c.95+11_95+34delCTCCCCTGCTCCGACCCGGGCTCC, HBA2:c.54delC, HBB:c.373C>A, and HBB:c.40G>A. The clinical implications of these mutations were described. Computational predictions were made for pI, amino acid conservation, and pathogenicity of the missense mutation. Relative quantitative data of the α‐globin mRNA were analyzed. CONCLUSION: Five novel globin mutations were identified in the populations of China, and those mutations were analyzed to provide a mechanistic view for their pathogenicity. These analyzed results improve genetic diagnostics for thalassemia, which can improve screening programs for thalassemia and prenatal diagnosis for Chinese population. John Wiley and Sons Inc. 2021-10-28 /pmc/articles/PMC8683637/ /pubmed/34708592 http://dx.doi.org/10.1002/mgg3.1835 Text en © 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Zhang, Jie
Xie, Meijuan
Peng, Zhiyu
Zhou, Xiaoyan
Zhao, Tingting
Jin, Chanchan
Yan, Yuanlong
Zeng, Xiaohong
Li, Dongmei
Zhang, Yangjia
Su, Jie
Feng, Na
He, Jing
Yao, Xiangmei
Lv, Tao
Zhu, Baosheng
Five novel globin gene mutations identified in five Chinese families by next‐generation sequencing
title Five novel globin gene mutations identified in five Chinese families by next‐generation sequencing
title_full Five novel globin gene mutations identified in five Chinese families by next‐generation sequencing
title_fullStr Five novel globin gene mutations identified in five Chinese families by next‐generation sequencing
title_full_unstemmed Five novel globin gene mutations identified in five Chinese families by next‐generation sequencing
title_short Five novel globin gene mutations identified in five Chinese families by next‐generation sequencing
title_sort five novel globin gene mutations identified in five chinese families by next‐generation sequencing
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683637/
https://www.ncbi.nlm.nih.gov/pubmed/34708592
http://dx.doi.org/10.1002/mgg3.1835
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