{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T14:44:27Z","timestamp":1787496267613,"version":"build-2736575974"},"reference-count":46,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,10,21]],"date-time":"2022-10-21T00:00:00Z","timestamp":1666310400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hereditary spherocytosis (HS) is the most common type of hereditary erythrocyte membrane disease and has varied phenotypic features and genetic patterns. We herein performed a retrospective study of 94 patients with HS and aimed to investigate the genetic variations and genotype\u2013phenotype correlations using targeted next\u2010generation sequencing. In 79\/94 (84%) patients, 83 HS variants including 67 novel variants were identified. Pathogenic variants of\n                    <jats:italic>SPTB<\/jats:italic>\n                    ,\n                    <jats:italic>ANK1<\/jats:italic>\n                    ,\n                    <jats:italic>SLC4A1<\/jats:italic>\n                    ,\n                    <jats:italic>SPTA1<\/jats:italic>\n                    , and\n                    <jats:italic>EPB42<\/jats:italic>\n                    were found in 32\/79(41%), 22\/79(28%), 15\/79 (19%), 8\/79 (9%), and 3\/79 (4%) of the patients respectively, revealing that\n                    <jats:italic>SPTB<\/jats:italic>\n                    is the most frequently mutated HS gene in Eastern China. Most\n                    <jats:italic>SPTB<\/jats:italic>\n                    and\n                    <jats:italic>ANK1<\/jats:italic>\n                    gene variations were nonsense and frameshift variations. Missense variants were the main variant type of\n                    <jats:italic>SLC4A1<\/jats:italic>\n                    ,\n                    <jats:italic>SPTA1<\/jats:italic>\n                    , and\n                    <jats:italic>EPB42<\/jats:italic>\n                    genes. Interestingly, one\n                    <jats:italic>SPTA1<\/jats:italic>\n                    variant (p. Arg1757Cys) showed an autosomal dominant inheritance pattern and one\n                    <jats:italic>EPB42<\/jats:italic>\n                    variant (p. Gln377His) was apparent as a hotspot variation. Furthermore, genotype\u2013phenotype analysis was performed among the five mutated gene groups. Besides the finding that patients with the\n                    <jats:italic>SLC4A1<\/jats:italic>\n                    variant had the highest mean corpuscular hemoglobin levels, no clear correlations between genotype and phenotype were observed.\n                  <\/jats:p>","DOI":"10.1111\/cge.14244","type":"journal-article","created":{"date-parts":[[2022,10,7]],"date-time":"2022-10-07T01:25:10Z","timestamp":1665105910000},"page":"67-78","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Identification of variants in 94 Chinese patients with hereditary spherocytosis by next\u2010generation sequencing"],"prefix":"10.1111","volume":"103","author":[{"given":"Wen\u2010Juan","family":"Wang","sequence":"first","affiliation":[{"name":"National Clinical Research Center for Hematologic Diseases, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun\u2010dan","family":"Xie","sequence":"additional","affiliation":[{"name":"National Clinical Research Center for Hematologic Diseases, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Yao","sequence":"additional","affiliation":[{"name":"National Clinical Research Center for Hematologic Diseases, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology  Suzhou 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Center for Hematologic Diseases, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong\u2010jie","family":"Shen","sequence":"additional","affiliation":[{"name":"National Clinical Research Center for Hematologic Diseases, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Su\u2010ning","family":"Chen","sequence":"additional","affiliation":[{"name":"National Clinical Research Center for Hematologic Diseases, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology The First Affiliated 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