{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:02Z","timestamp":1753869722900,"version":"3.41.2"},"reference-count":21,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,8,18]],"date-time":"2021-08-18T00:00:00Z","timestamp":1629244800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The condition of uniparental disomy (UPD) occurs when an individual inherits two copies of a chromosome, or part of a chromosome, from one parent. Most cases of uniparental heterodisomy (UPhD) do not cause diseases, whereas cases of uniparental isodisomy (UPiD), while rare, may be pathogenic. Theoretically, UPiD may cause rare genetic diseases in a homozygous recessive manner.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A 4\u2010year\u2010old girl presented with congenital hearing loss, developmental delay, hepatomegaly, and other clinical features. She and her parents were genetically tested using trio whole exome sequencing (Trio\u2010WES) and copy number variation sequencing (CNV\u2010seq). In addition, we built a structural model to further examine the pathogenicity of the UPiD variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Trio\u2010WES identified a paternal UPiD in chromosome 1, and two homozygous pathogenic variants <jats:italic>AGL<\/jats:italic> c.4284T&gt;G\/p.Tyr1428* and <jats:italic>USH2A<\/jats:italic> c.6528T&gt;A\/p.Tyr2176* in the UPiD region. We further analyzed the pathogenicity of these two variations. The patient was diagnosed with Usher syndrome type 2A (USH2A) and glycogen storage disease type III (GSD3).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study reports a rare case of a patient carrying two pathogenic variants of different genes caused by paternal UPiD, supporting the potential application of Trio\u2010WES in detecting and facilitating the diagnosis of UPD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1779","type":"journal-article","created":{"date-parts":[[2021,8,18]],"date-time":"2021-08-18T08:57:40Z","timestamp":1629277060000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8701-0129","authenticated-orcid":false,"given":"Hua","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology Shengjing Hospital of China Medical University Shenyang P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang","family":"Huo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Shengjing Hospital of China Medical University Shenyang P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yajian","family":"Wang","sequence":"additional","affiliation":[{"name":"Chigene (Beijing) Translational Medical Research Center Co., Ltd. Beijing P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiwei","family":"Sun","sequence":"additional","affiliation":[{"name":"Chigene (Beijing) Translational Medical Research Center Co., Ltd. Beijing P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiyue","family":"Gu","sequence":"additional","affiliation":[{"name":"Chigene (Beijing) Translational Medical Research Center Co., Ltd. Beijing P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,8,18]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.06.460"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0045-x"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060207"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0195-2"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5370.1753"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0060105"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.6823"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2006.05.005"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.suppl_1.1757"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.283"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2017.00105"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0610950104"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.24"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.634"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.120.11.1566"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1521-1878(200005)22:5<452::AID-BIES7>3.0.CO;2-K"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118799"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.945"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0704-x"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-10867-4_83"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1779","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1779","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1779","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T12:38:28Z","timestamp":1693226308000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1779"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,18]]},"references-count":21,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["10.1002\/mgg3.1779"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1779","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2021,8,18]]},"assertion":[{"value":"2020-06-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1779"}}