{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T01:17:09Z","timestamp":1779326229881,"version":"3.51.4"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,6,28]],"date-time":"2021-06-28T00:00:00Z","timestamp":1624838400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,6,28]],"date-time":"2021-06-28T00:00:00Z","timestamp":1624838400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81770316, 81970249"],"award-info":[{"award-number":["81770316, 81970249"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Taishan Scholars Program of Shandong Province","award":["2018"],"award-info":[{"award-number":["2018"]}]},{"DOI":"10.13039\/501100010870","name":"Qingdao Science and Technology Plan","doi-asserted-by":"crossref","award":["20-3-4-47-nsh"],"award-info":[{"award-number":["20-3-4-47-nsh"]}],"id":[{"id":"10.13039\/501100010870","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Hereditary spherocytosis (HS) is a common inherited red blood cell membrane disorder characterized by an abnormal increase of spherocytes in peripheral blood. <jats:italic>SPTB<\/jats:italic> gene mutation is one of the most common causes of HS; however, few cases of HS resulting from <jats:italic>SPTB<\/jats:italic> mutation in the Chinese population have been reported so far.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 3-year-old Chinese girl presented to Qingdao Women and Children\u2019s Hospital, Qingdao University, with atrial septal defect (ASD). Meanwhile, she was clinically diagnosed with HS. Whole genome sequencing (WGS) was performed for the proband and her parents for genetic molecular analysis. A novel <jats:italic>SPTB<\/jats:italic> mutation (c.1756delG) was detected by WGS and confirmed by Sanger sequencing in the proband. This mutation results in a frameshift with a premature termination codon in exon 12, leading to a nonsense mutation (p.Ala586Profs*7). Her parents had no similar symptoms, and blood routine and serum biochemical tests showed no significant abnormalities. The patient\u2019s mother did not know of any relatives with HS-like symptoms. Percutaneous transcatheter closure was successfully performed for treating the ASD.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>In this study, we identified a novel <jats:italic>SPTB<\/jats:italic> frameshift mutation in a Chinese girl with HS. This finding would expand the spectrum of <jats:italic>SPTB<\/jats:italic> mutations, provide a valuable insight into the genotyping of HS in the Chinese population, and contribute to the clinical management and genetic counseling in HS.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12887-021-02771-4","type":"journal-article","created":{"date-parts":[[2021,6,28]],"date-time":"2021-06-28T05:02:39Z","timestamp":1624856559000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report"],"prefix":"10.1186","volume":"21","author":[{"given":"Zhanhui","family":"Du","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gang","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kuiliang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhen","family":"Bing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silin","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,6,28]]},"reference":[{"key":"2771_CR1","doi-asserted-by":"publisher","first-page":"76","DOI":"10.5582\/irdr.2015.01002","volume":"4","author":"C Wang","year":"2015","unstructured":"Wang C, Cui Y, Li Y, Liu X, Han J. 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Written informed consent for clinical and molecular analyses as well as data publication was obtained from all subjects.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent to publication in this study was obtained from the participants\u2019 legal guardian.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"291"}}