{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T09:43:57Z","timestamp":1768815837257,"version":"3.49.0"},"reference-count":50,"publisher":"MDPI AG","issue":"20","license":[{"start":{"date-parts":[[2021,10,12]],"date-time":"2021-10-12T00:00:00Z","timestamp":1633996800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Science Centre, Poland,","award":["2015\/19\/B\/NZ5\/03469."],"award-info":[{"award-number":["2015\/19\/B\/NZ5\/03469."]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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 SPTB 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 SPTB gene, which is most likely the cause of clinical symptoms typical of hereditary spherocytosis (membranopathy) due to structural and functional impairments of human \u03b2-spectrin. This mutation allows for a better understanding of the molecular mechanism(s) of one of the membranopathies, hereditary spherocytosis.<\/jats:p>","DOI":"10.3390\/ijms222011007","type":"journal-article","created":{"date-parts":[[2021,10,13]],"date-time":"2021-10-13T06:38:41Z","timestamp":1634107121000},"page":"11007","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Identification of a Novel Mutation of \u03b2-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9270-7510","authenticated-orcid":false,"given":"D\u017camila M.","family":"Bogus\u0142awska","sequence":"first","affiliation":[{"name":"Department of Biotechnology, Institute of Biological Sciences, University of Zielona G\u00f3ra, Prof. Szafrana St. 1, 65-516 Zielona G\u00f3ra, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9609-2979","authenticated-orcid":false,"given":"Micha\u0142","family":"Skulski","sequence":"additional","affiliation":[{"name":"Department of Cytobiochemistry, Faculty of Biotechnology, University of Wroc\u0142aw, ul. Fryderyka Joliot-Curie 14a, 50-383 Wroc\u0142aw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9664-8252","authenticated-orcid":false,"given":"Beata","family":"Machnicka","sequence":"additional","affiliation":[{"name":"Department of Biotechnology, Institute of Biological Sciences, University of Zielona G\u00f3ra, Prof. Szafrana St. 1, 65-516 Zielona G\u00f3ra, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanis\u0142aw","family":"Potoczek","sequence":"additional","affiliation":[{"name":"Department and Clinic of Haematology, Blood Neoplasms, and Bone Marrow Transplantation, Wroclaw Medical University, Wybrze\u017ce L. Pasteura 4, 50-367 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3244-7694","authenticated-orcid":false,"given":"Sebastian","family":"Kraszewski","sequence":"additional","affiliation":[{"name":"Department of Biomedical Engineering, Wroc\u0142aw University of Science and Technology, Plac Grunwaldzki 13 (D-1), 50-377 Wroc\u0142aw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazimierz","family":"Kuliczkowski","sequence":"additional","affiliation":[{"name":"Silesian Park of Medical Technology Kardio-Med Silesia, ul. M. Curie-Sk\u0142odowskiej 10c, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksander F.","family":"Sikorski","sequence":"additional","affiliation":[{"name":"Research and Development Centre, Regional Specialist Hospital, Kamie\u0144skiego 73a, 51-154 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.blre.2006.03.005","article-title":"The molecular basis of hereditary red cell membrane disorders","volume":"21","author":"Delaunay","year":"2007","journal-title":"Blood Rev."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1016\/S0140-6736(08)61588-3","article-title":"Hereditary spherocytosis","volume":"372","author":"Perrotta","year":"2008","journal-title":"Lancet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"516","DOI":"10.3324\/haematol.2011.052845","article-title":"Diagnostic power of laboratory tests for hereditary spherocytosis: A comparison study in 150 patients grouped according to molecular and clinical characteristics","volume":"97","author":"Bianchi","year":"2012","journal-title":"Haematologica"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1111\/j.1365-2141.2011.08921.x","article-title":"Guidelines for the diagnosis and management of hereditary spherocytosis\u20142011 update","volume":"156","author":"Langer","year":"2012","journal-title":"Br. 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