{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T09:56:49Z","timestamp":1753869409339,"version":"3.41.2"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,5,4]],"date-time":"2021-05-04T00:00:00Z","timestamp":1620086400000},"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 Laboratory Analysis"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hereditary elliptocytosis (HE) is a heterogeneous red blood cell membrane disorder characterized by the presence of elliptocytes on a peripheral blood smear. Clinical manifestations of HE vary widely from asymptomatic carriers to patients with severe transfusion\u2010dependent anemia. Most patients are asymptomatic or have mild anemia, which hinders diagnosis. The proband in this case had mild anemia and jaundice over a period of 4\u00a0years, the etiology of which was unclear. Hence, he was admitted to our hospital for further diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Peripheral blood smears and routine blood tests were performed and biochemical parameters of the proband, and his family members were determined. To confirm the diagnosis, gene mutations were screened in the proband using next\u2010generation sequencing (NGS) and verified by Sanger sequencing in other family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel mutation (c.1294delA, p.Ser432\u00a0fs) in exon 15 of the <jats:italic>EPB41<\/jats:italic> gene was detected in the proband and his family members. This mutation results in a frameshift and a premature stop codon at position 455, encoding a truncated protein. The variant was likely pathogenic according to the criteria of the American College of Medical Genetics and Genomics. SWISS\u2010MODEL protein structure prediction indicated partial loss of the spectrin and actin binding and C\u2010terminal domains.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A heterozygous mutation 1294delA in exon 15 of the <jats:italic>EPB41<\/jats:italic> gene was identified using NGS and Sanger sequencing in members of a Chinese family. This identification expands the spectrum of <jats:italic>EPB41<\/jats:italic> mutations and contributes to the genetic diagnosis of families with HE.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.23781","type":"journal-article","created":{"date-parts":[[2021,5,4]],"date-time":"2021-05-04T11:58:27Z","timestamp":1620129507000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the <i>EPB41<\/i> gene"],"prefix":"10.1002","volume":"35","author":[{"given":"Manxiong","family":"Cao","sequence":"first","affiliation":[{"name":"Department of Hematology the First Affiliated Hospital of Shantou University Medical College Shantou P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhanqin","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pharmacology Shantou University Medical College Shantou P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huanbing","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine the First Affiliated Hospital of Shantou University Medical College Shantou P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinghua","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine the First Affiliated Hospital of Shantou University Medical College Shantou P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2063-3994","authenticated-orcid":false,"given":"Dongqing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine the First Affiliated Hospital of Shantou University Medical College Shantou P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2004.01.003"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0b013e3280d21afd"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1996.d01-1869.x"},{"issue":"4","key":"e_1_2_9_5_1","first-page":"367","article-title":"Characteristics of red cell membrane disorders in the Japanese population","volume":"45","author":"Yawata Y","year":"1997","journal-title":"Rinsho Byori"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.5045\/br.2013.48.3.211"},{"issue":"4","key":"e_1_2_9_7_1","first-page":"5903","article-title":"Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis","volume":"17","author":"Ma S","year":"2018","journal-title":"Mol Med Rep"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.15999"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-11-122457"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2011.07.001"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2016.07.003"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.4.2077"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-01-261396"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2013.04.003"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2010.12.006"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2008.07091.x"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2016.142463"},{"issue":"1","key":"e_1_2_9_18_1","first-page":"21","article-title":"Mutations involving the spectrin heterodimer contact site: clinical expression and alterations in specific function","volume":"30","author":"Delaunay J","year":"1993","journal-title":"Semin Hematol"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a000885"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.23781","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcla.23781","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.23781","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T19:30:52Z","timestamp":1693423852000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.23781"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,4]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10.1002\/jcla.23781"],"URL":"https:\/\/doi.org\/10.1002\/jcla.23781","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"type":"print","value":"0887-8013"},{"type":"electronic","value":"1098-2825"}],"subject":[],"published":{"date-parts":[[2021,5,4]]},"assertion":[{"value":"2020-09-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e23781"}}