{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:12Z","timestamp":1772160072142,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,7,26]],"date-time":"2022-07-26T00:00:00Z","timestamp":1658793600000},"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 Genetics"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Limb\u2010Girdle muscular dystrophy (LGMD) is a group of muscle disorders with highly heterogeneous genetic patterns and clinical phenotypes, and this group includes multiple subtypes. Different LGMD subtypes have similar phenotypes and clinical overlaps, these subtypes are difficult to distinguish by clinical symptoms alone and can only be accurately diagnosed by analysis in combination with definitive genetic test results. Here, we report a female presenting features of LGMD. After analysis of whole\u2010exome sequencing data, a novel homozygous\n                    <jats:italic>POPDC3<\/jats:italic>\n                    variant c.486\u20101G&gt;A (rs113419658) located in the acceptor splice site of intron 2 was identified in the proband. The variant effect on splicing were analyzed by genetic analysis based on cDNA synthesized by the patient's RNA. cDNA analysis indicated that the novel homozygous\n                    <jats:italic>POPDC3<\/jats:italic>\n                    splice variant disrupted original acceptor splice site, which can cause a frameshift in the mRNA of the\n                    <jats:italic>POPDC3<\/jats:italic>\n                    gene, thereby producing a truncated\n                    <jats:italic>POPDC3<\/jats:italic>\n                    protein and ultimately affecting its normal function.\n                    <jats:italic>POPDC3<\/jats:italic>\n                    variant was recently associated with recessive limb\u2010girdle muscular dystrophy type 26 (LGMDR26). Based on the above results, we hypothesize that this variant is probably a pathogenic variant, and expand the gene variant spectrum of\n                    <jats:italic>POPDC3<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.1111\/cge.14192","type":"journal-article","created":{"date-parts":[[2022,7,17]],"date-time":"2022-07-17T05:18:05Z","timestamp":1658035085000},"page":"345-349","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A novel splice site variant in the\n                    <scp>\n                      <i>POPDC3<\/i>\n                    <\/scp>\n                    causes autosomal recessive limb\u2010girdle muscular dystrophy type 26"],"prefix":"10.1111","volume":"102","author":[{"given":"Lin","family":"Zhang","sequence":"first","affiliation":[{"name":"The Department of Medical Genetics Institute of Medical Biology, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Kunming China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenwu","family":"Li","sequence":"additional","affiliation":[{"name":"The Department of Neurology People's Hospital of Chuxiong Yi Autonomous Prefecture  Chuxiong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuting","family":"Weng","sequence":"additional","affiliation":[{"name":"The Department of Urology Taizhou Hospital of Zhejiang Province  Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keqin","family":"Lin","sequence":"additional","affiliation":[{"name":"The Department of Medical Genetics Institute of Medical Biology, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Kunming China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Huang","sequence":"additional","affiliation":[{"name":"The Department of Medical Genetics Institute of Medical Biology, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Kunming China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaohui","family":"Ma","sequence":"additional","affiliation":[{"name":"The Department of Medical Genetics Institute of Medical Biology, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Kunming China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiayou","family":"Chu","sequence":"additional","affiliation":[{"name":"The Department of Medical Genetics Institute of Medical Biology, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Kunming China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhaoqing","family":"Yang","sequence":"additional","affiliation":[{"name":"The Department of Medical Genetics Institute of Medical Biology, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Kunming China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaochao","family":"Zhang","sequence":"additional","affiliation":[{"name":"School of Pharmaceutical Sciences and Yunnan Key Laboratory of Pharmacology for Natural Products Kunming Medical University  Kunming China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Sun","sequence":"additional","affiliation":[{"name":"The Department of Medical Genetics Institute of Medical Biology, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Kunming China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,7,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.27907"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellsig.2017.09.015"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25620"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2017.11.003"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_7_1","unstructured":"Human Splicing Finder.Aix Marseille Universit\u00e9;2013. Accessed April 30 2018.http:\/\/umd.be\/Redirect.html"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt376"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12900-014-0022-0"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.79"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23630"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-019-00493-z"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells8121594"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgm.3412"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14192","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14192","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14192","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T20:31:04Z","timestamp":1692736264000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14192"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,26]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,10]]}},"alternative-id":["10.1111\/cge.14192"],"URL":"https:\/\/doi.org\/10.1111\/cge.14192","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14192\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14192\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14192\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14192\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14192\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14192\/v3\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,26]]},"assertion":[{"value":"2022-04-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}