Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing
Hereditary spherocytosis (HS), the most commonly inherited hemolytic anemia in northern Europeans, comprises a group of diseases whose heterogeneous genetic basis results in a variable clinical presentation. High-throughput genome sequencing methods have made a leading contribution to the recent pro...
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2021-10-01
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| author | Dżamila M. Bogusławska Michał Skulski Beata Machnicka Stanisław Potoczek Sebastian Kraszewski Kazimierz Kuliczkowski Aleksander F. Sikorski |
| author_facet | Dżamila M. Bogusławska Michał Skulski Beata Machnicka Stanisław Potoczek Sebastian Kraszewski Kazimierz Kuliczkowski Aleksander F. Sikorski |
| author_sort | Dżamila M. Bogusławska |
| collection | DOAJ |
| description | Hereditary spherocytosis (HS), the most commonly inherited hemolytic anemia in northern Europeans, comprises a group of diseases whose heterogeneous genetic basis results in a variable clinical presentation. High-throughput genome sequencing methods have made a leading contribution to the recent progress in research on and diagnostics of inherited diseases and inspired us to apply whole exome sequencing (WES) to identify potential mutations in HS. The data presented here reveal a novel mutation probably responsible for HS in a single Polish family. Patients with clinical evidence of HS (clinical symptoms, hematological data, and EMA test) were enrolled in the study. The examination of the resulting WES data showed a number of polymorphisms in 71 genes associated with known erythrocyte pathologies (including membranopathies, enzymopathies, and hemoglobinopathies). Only a single <i>SPTB</i> gene variant indicated the possible molecular mechanism of the disease in the studied family. The new missense mutation p.C183Y was identified using WES in the <i>SPTB</i> gene, which is most likely the cause of clinical symptoms typical of hereditary spherocytosis (membranopathy) due to structural and functional impairments of human β-spectrin. This mutation allows for a better understanding of the molecular mechanism(s) of one of the membranopathies, hereditary spherocytosis. |
| first_indexed | 2024-03-10T06:31:12Z |
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| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T06:31:12Z |
| publishDate | 2021-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-dee4794b2989403bb681eb2ed680c83c2023-11-22T18:32:17ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-10-0122201100710.3390/ijms222011007Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome SequencingDżamila M. Bogusławska0Michał Skulski1Beata Machnicka2Stanisław Potoczek3Sebastian Kraszewski4Kazimierz Kuliczkowski5Aleksander F. Sikorski6Department of Biotechnology, Institute of Biological Sciences, University of Zielona Góra, Prof. Szafrana St. 1, 65-516 Zielona Góra, PolandDepartment of Cytobiochemistry, Faculty of Biotechnology, University of Wrocław, ul. Fryderyka Joliot-Curie 14a, 50-383 Wrocław, PolandDepartment of Biotechnology, Institute of Biological Sciences, University of Zielona Góra, Prof. Szafrana St. 1, 65-516 Zielona Góra, PolandDepartment and Clinic of Haematology, Blood Neoplasms, and Bone Marrow Transplantation, Wroclaw Medical University, Wybrzeże L. Pasteura 4, 50-367 Wroclaw, PolandDepartment of Biomedical Engineering, Wrocław University of Science and Technology, Plac Grunwaldzki 13 (D-1), 50-377 Wrocław, PolandSilesian Park of Medical Technology Kardio-Med Silesia, ul. M. Curie-Skłodowskiej 10c, 41-800 Zabrze, PolandResearch and Development Centre, Regional Specialist Hospital, Kamieńskiego 73a, 51-154 Wroclaw, PolandHereditary spherocytosis (HS), the most commonly inherited hemolytic anemia in northern Europeans, comprises a group of diseases whose heterogeneous genetic basis results in a variable clinical presentation. High-throughput genome sequencing methods have made a leading contribution to the recent progress in research on and diagnostics of inherited diseases and inspired us to apply whole exome sequencing (WES) to identify potential mutations in HS. The data presented here reveal a novel mutation probably responsible for HS in a single Polish family. Patients with clinical evidence of HS (clinical symptoms, hematological data, and EMA test) were enrolled in the study. The examination of the resulting WES data showed a number of polymorphisms in 71 genes associated with known erythrocyte pathologies (including membranopathies, enzymopathies, and hemoglobinopathies). Only a single <i>SPTB</i> gene variant indicated the possible molecular mechanism of the disease in the studied family. The new missense mutation p.C183Y was identified using WES in the <i>SPTB</i> gene, which is most likely the cause of clinical symptoms typical of hereditary spherocytosis (membranopathy) due to structural and functional impairments of human β-spectrin. This mutation allows for a better understanding of the molecular mechanism(s) of one of the membranopathies, hereditary spherocytosis.https://www.mdpi.com/1422-0067/22/20/11007hereditary spherocytosisβ-spectrinactin binding domainwhole exome sequencing |
| spellingShingle | Dżamila M. Bogusławska Michał Skulski Beata Machnicka Stanisław Potoczek Sebastian Kraszewski Kazimierz Kuliczkowski Aleksander F. Sikorski Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing International Journal of Molecular Sciences hereditary spherocytosis β-spectrin actin binding domain whole exome sequencing |
| title | Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing |
| title_full | Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing |
| title_fullStr | Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing |
| title_full_unstemmed | Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing |
| title_short | Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing |
| title_sort | identification of a novel mutation of β spectrin in hereditary spherocytosis using whole exome sequencing |
| topic | hereditary spherocytosis β-spectrin actin binding domain whole exome sequencing |
| url | https://www.mdpi.com/1422-0067/22/20/11007 |
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