{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T03:58:41Z","timestamp":1763092721757,"version":"3.41.2"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,5,4]],"date-time":"2021-05-04T00:00:00Z","timestamp":1620086400000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["P30CA16058","P01CA124570"],"award-info":[{"award-number":["P30CA16058","P01CA124570"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>We studied a large family with 22 individuals affected with autosomal dominant hereditary spherocytosis (HS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genome\u2010wide linkage, whole\u2010genome sequencing (WGS), Sanger sequencing, RT\u2010PCR, and ToPO TA cloning analyses were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We revealed a heterozygous G&gt;A transition in the 14q23 locus, at position +1 of the intron 8 donor splice site of the spectrin beta, erythrocytic (<jats:italic>SPTB<\/jats:italic>) gene. This splice variant (<jats:italic>SPTB<\/jats:italic> c.1064+1G&gt;A) was confirmed by Sanger sequencing and showed complete co\u2010segregation with HS in the family. Further RT\u2010PCR reactions and sequencing analysis indicated that the variant leads to the exclusion of exon 8 and subsequent frameshift in exon 9 and a premature stop codon in <jats:italic>SPTB<\/jats:italic>. Translation of the altered allele would lead to a truncation with a loss of all spectrin repeat domains in SPTB protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This variant is novel and has not been found in any databases. We propose that this splice variant explains the spherocytosis phenotype observed in this large family.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1641","type":"journal-article","created":{"date-parts":[[2021,5,4]],"date-time":"2021-05-04T11:47:57Z","timestamp":1620128877000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel essential splice site variant in SPTB in a large hereditary spherocytosis family"],"prefix":"10.1002","volume":"9","author":[{"given":"Taina T.","family":"Nieminen","sequence":"first","affiliation":[{"name":"Department of Cancer Biology and Genetics The Ohio State University Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandya","family":"Liyanarachchi","sequence":"additional","affiliation":[{"name":"Department of Cancer Biology and Genetics The Ohio State University Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"Daniel F.","family":"Comiskey","sequence":"additional","affiliation":[{"name":"Department of Cancer Biology and Genetics The Ohio State University Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanqiang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Cancer Biology and Genetics The Ohio State University Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Cancer Biology and Genetics The Ohio State University Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabella V.","family":"Hendrickson","sequence":"additional","affiliation":[{"name":"Department of Cancer Biology and Genetics The Ohio State University Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela","family":"Brock","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine The Ohio State University Comprehensive Cancer Center The Ohio State University Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert","family":"de la Chapelle","sequence":"additional","affiliation":[{"name":"Department of Cancer Biology and Genetics The Ohio State University Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5982-3250","authenticated-orcid":false,"given":"Huiling","family":"He","sequence":"additional","affiliation":[{"name":"Department of Cancer Biology and Genetics The Ohio State University Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,4]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_6_2_1","DOI":"10.3324\/haematol.2016.142463"},{"doi-asserted-by":"publisher","key":"e_1_2_6_3_1","DOI":"10.1016\/j.blre.2013.04.003"},{"doi-asserted-by":"publisher","key":"e_1_2_6_4_1","DOI":"10.1016\/j.blre.2006.03.005"},{"doi-asserted-by":"publisher","key":"e_1_2_6_5_1","DOI":"10.1002\/humu.22981"},{"doi-asserted-by":"publisher","key":"e_1_2_6_6_1","DOI":"10.1016\/j.pcl.2013.09.001"},{"doi-asserted-by":"publisher","key":"e_1_2_6_7_1","DOI":"10.1159\/000486229"},{"doi-asserted-by":"publisher","key":"e_1_2_6_8_1","DOI":"10.1038\/s41596-018-0052-3"},{"doi-asserted-by":"publisher","key":"e_1_2_6_9_1","DOI":"10.1186\/s13059-014-0577-x"},{"doi-asserted-by":"publisher","key":"e_1_2_6_10_1","DOI":"10.1093\/bioinformatics\/bty897"},{"doi-asserted-by":"publisher","key":"e_1_2_6_11_1","DOI":"10.1007\/BF00210743"},{"doi-asserted-by":"publisher","key":"e_1_2_6_12_1","DOI":"10.1242\/jcs.181008"},{"doi-asserted-by":"publisher","key":"e_1_2_6_13_1","DOI":"10.1182\/blood-2014-12-512772"},{"doi-asserted-by":"publisher","key":"e_1_2_6_14_1","DOI":"10.1016\/j.bbamem.2013.05.002"},{"doi-asserted-by":"publisher","key":"e_1_2_6_15_1","DOI":"10.1111\/cge.12749"},{"doi-asserted-by":"publisher","key":"e_1_2_6_16_1","DOI":"10.1016\/j.jprot.2012.08.010"},{"doi-asserted-by":"publisher","key":"e_1_2_6_17_1","DOI":"10.1038\/hgv.2015.29"},{"doi-asserted-by":"publisher","key":"e_1_2_6_18_1","DOI":"10.1089\/thy.2018.0736"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1641","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1641","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1641","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T16:59:35Z","timestamp":1693414775000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1641"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,5]]}},"alternative-id":["10.1002\/mgg3.1641"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1641","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2021,5]]},"assertion":[{"value":"2020-12-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-17","order":1,"name":"accepted","label":"Accepted","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":"e1641"}}