Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China
The aim of this study was to perform a molecular diagnosis of hemophilia A (HA) among patients in the Shanxi Province of China. Fifty-two HA patients were tested, including IVS22 (31 samples), IVS1 (3 samples), missense (11 samples), nonsense (3 samples), and 4 cases of frameshift (2 cases of deleti...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Georg Thieme Verlag KG
2023-09-01
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| Series: | Global Medical Genetics |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1774322 |
| _version_ | 1797687058586664960 |
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| author | Xialin Zhang Kun Chen Sicheng Bian Gang Wang Xiuyu Qin Ruijuan Zhang Linhua Yang |
| author_facet | Xialin Zhang Kun Chen Sicheng Bian Gang Wang Xiuyu Qin Ruijuan Zhang Linhua Yang |
| author_sort | Xialin Zhang |
| collection | DOAJ |
| description | The aim of this study was to perform a molecular diagnosis of hemophilia A (HA) among patients in the Shanxi Province of China. Fifty-two HA patients were tested, including IVS22 (31 samples), IVS1 (3 samples), missense (11 samples), nonsense (3 samples), and 4 cases of frameshift (2 cases of deletion, 1 case of insertion, 1 case of single-base duplication). With the exception of the single-base G duplication variant (p.Ile1213Asnfs*28), this was the hotspot variant reported by research groups at an early stage. The remaining variants were found, for the first time, in the region. The missense variants p.Cys172Ser, p.Tyr404Ser, p.Asp1903Gly, and p.Ser2284Asn, the deletion variant p.Leu2249fs*9, and the insertion variant p.Pro2319fs*97 were novel variants. The application of next-generation sequencing (NGS) molecular diagnosis enriched the variant spectrum of HA, which is greatly significant for individualized genetic counseling, clinical diagnosis, and treatment. NGS and a variety of bioinformatics prediction methods can further analyze the impact of genetic variation on protein structure or function and lay the foundation to reveal the molecular pathogenic mechanism of novel variants. |
| first_indexed | 2024-03-12T01:13:52Z |
| format | Article |
| id | doaj.art-8b85a7eca3b7459bba3982dbc7e774c6 |
| institution | Directory Open Access Journal |
| issn | 2699-9404 |
| language | English |
| last_indexed | 2024-03-12T01:13:52Z |
| publishDate | 2023-09-01 |
| publisher | Georg Thieme Verlag KG |
| record_format | Article |
| series | Global Medical Genetics |
| spelling | doaj.art-8b85a7eca3b7459bba3982dbc7e774c62023-09-13T23:07:24ZengGeorg Thieme Verlag KGGlobal Medical Genetics2699-94042023-09-01100324726210.1055/s-0043-1774322Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, ChinaXialin Zhang0Kun Chen1Sicheng Bian2Gang Wang3Xiuyu Qin4Ruijuan Zhang5Linhua Yang6Department of Hematology, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Tongji Shanxi Hospital, Third Hospital of Shanxi Medical University, Taiyuan, ChinaDepartment of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Medicine, Case Western Reserve University, Cleveland, OhioDepartment of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi, ChinaDepartment of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi, ChinaDepartment of Hematology, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Tongji Shanxi Hospital, Third Hospital of Shanxi Medical University, Taiyuan, ChinaDepartment of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi, ChinaThe aim of this study was to perform a molecular diagnosis of hemophilia A (HA) among patients in the Shanxi Province of China. Fifty-two HA patients were tested, including IVS22 (31 samples), IVS1 (3 samples), missense (11 samples), nonsense (3 samples), and 4 cases of frameshift (2 cases of deletion, 1 case of insertion, 1 case of single-base duplication). With the exception of the single-base G duplication variant (p.Ile1213Asnfs*28), this was the hotspot variant reported by research groups at an early stage. The remaining variants were found, for the first time, in the region. The missense variants p.Cys172Ser, p.Tyr404Ser, p.Asp1903Gly, and p.Ser2284Asn, the deletion variant p.Leu2249fs*9, and the insertion variant p.Pro2319fs*97 were novel variants. The application of next-generation sequencing (NGS) molecular diagnosis enriched the variant spectrum of HA, which is greatly significant for individualized genetic counseling, clinical diagnosis, and treatment. NGS and a variety of bioinformatics prediction methods can further analyze the impact of genetic variation on protein structure or function and lay the foundation to reveal the molecular pathogenic mechanism of novel variants.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1774322hemophilia Amolecular diagnosispathogenic mechanismnovel variants |
| spellingShingle | Xialin Zhang Kun Chen Sicheng Bian Gang Wang Xiuyu Qin Ruijuan Zhang Linhua Yang Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China Global Medical Genetics hemophilia A molecular diagnosis pathogenic mechanism novel variants |
| title | Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China |
| title_full | Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China |
| title_fullStr | Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China |
| title_full_unstemmed | Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China |
| title_short | Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China |
| title_sort | molecular diagnosis of hemophilia a and pathogenesis of novel f8 variants in shanxi china |
| topic | hemophilia A molecular diagnosis pathogenic mechanism novel variants |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1774322 |
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