{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T12:32:13Z","timestamp":1763641933779,"version":"3.37.3"},"reference-count":19,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2015,5,5]],"date-time":"2015-05-05T00:00:00Z","timestamp":1430784000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007208","name":"Vanderbilt-Ingram Cancer Center","doi-asserted-by":"crossref","award":["R01CA102729"],"award-info":[{"award-number":["R01CA102729"]}],"id":[{"id":"10.13039\/100007208","id-type":"DOI","asserted-by":"crossref"}]},{"name":"TJ Martell Foundation","award":["R01CA160432"],"award-info":[{"award-number":["R01CA160432"]}]},{"DOI":"10.13039\/100012394","name":"Robert J. Kleberg, Jr. and Helen C. Kleberg Foundation","doi-asserted-by":"crossref","award":["5K12CA090625-14"],"award-info":[{"award-number":["5K12CA090625-14"]}],"id":[{"id":"10.13039\/100012394","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Schimke Immunoosseous Dysplasia (SIOD) is a rare, autosomal recessive disorder of childhood characterized by spondyloepiphyseal dysplasia, focal segmental glomerulosclerosis and renal failure, T\u2010cell immunodeficiency, and cancer in certain instances. Approximately half of patients with SIOD are reported to have biallelic mutations in <jats:italic>SMARCAL1<\/jats:italic> (SWI\/SNF\u2010related matrix\u2010associated actin\u2010dependent regulator of chromatin, subfamily a\u2010like 1), which encodes a DNA translocase that localizes to sites of DNA replication and repairs damaged replication forks. We present a novel mutation (NM_014140.3:c.2070+2insT) that results in defective <jats:italic>SMARCAL1<\/jats:italic> mRNA splicing in a child with SIOD. This mutation, within the donor site of intron 12, results in the skipping of exon 12, which encodes part of a critical hinge region connecting the two lobes of the ATPase domain. This mutation was not recognized as deleterious by diagnostic <jats:italic>SMARCAL1<\/jats:italic> sequencing, but discovered through next generation sequencing and found to result in absent <jats:italic>SMARCAL1<\/jats:italic> expression in patient\u2010derived lymphoblasts. The splicing defect caused by this mutation supports the concept of exon definition. Furthermore, it illustrates the need to broaden the search for <jats:italic>SMARCAL1<\/jats:italic> mutations in patients with SIOD lacking coding sequence variants. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37146","type":"journal-article","created":{"date-parts":[[2015,5,5]],"date-time":"2015-05-05T22:46:48Z","timestamp":1430866008000},"page":"2260-2264","source":"Crossref","is-referenced-by-count":16,"title":["A novel splice site mutation in <i>SMARCAL1<\/i> results in aberrant exon definition in a child with schimke immunoosseous dysplasia"],"prefix":"10.1002","volume":"167","author":[{"given":"Clinton","family":"Carroll","sequence":"first","affiliation":[{"name":"Department of Biochemistry Vanderbilt University School of Medicine Nashville Tennessee"},{"name":"Division of Pediatric Hematology\/Oncology Vanderbilt University School of Medicine, Monroe Carell Jr. Children's Hospital at Vanderbilt Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tracy E.","family":"Hunley","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Vanderbilt University School of Medicine Monroe Carell Jr. Children's Hospital at Vanderbilt Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Cancer Biology Vanderbilt University School of Medicine Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Cortez","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Vanderbilt University School of Medicine Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,5,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1839909"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.4161\/nucl.1.3.11739"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2013.05.002"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.178459.111"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng821"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm402"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.24542"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1832309"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20432"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.4161\/rna.20386"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00858821"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2014.03.006"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-009-1115-9"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.10.1.84"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81040-6"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1836409"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1831509"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37146","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37146","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37146","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T11:10:21Z","timestamp":1694344221000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37146"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,5]]},"references-count":19,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["10.1002\/ajmg.a.37146"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37146","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2015,5,5]]}}}