{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T12:13:53Z","timestamp":1789733633260,"version":"4.0.1"},"reference-count":27,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction:<\/jats:title>\n                    <jats:p>\n                      Autosomal dominant polycystic kidney disease (ADPKD) is a very common hereditary renal disorder. Mutations in\n                      <jats:italic toggle=\"yes\">PKD1<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">PKD2<\/jats:italic>\n                      , identified as disease-causing genes, account for 85% and 15% of the ADPKD cases, respectively.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>In this study, the mutation analysis of polycystic kidney disease (PKD) genes was performed in a Chinese family with suspected ADPKD using targeted clinical exome sequencing (CES). The candidate pathogenic variants were further tested by using Sanger sequencing and validated for co-segregation. In addition, reverse transcription-polymerase chain reaction (RT-PCR) was performed to test for abnormal splicing and assess its potential pathogenicity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      A novel atypical splicing mutation that belongs to unclassified variants (UCVs), IVS6+5G&gt;C, was identified in three family members by CES and was shown to co-segregate only with the affected individuals. The RT-PCR revealed the abnormal splicing of exon 6, which thus caused truncating mutation. These findings suggested that the atypical splice site alteration, IVS6+5G&gt;C, in the\n                      <jats:italic toggle=\"yes\">PKD2<\/jats:italic>\n                      gene was the potential pathogenic mutation leading to ADPKD in this Chinese family.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>The data available in this study provided strong evidence that IVS6+5G&gt;C is the potential pathogenic mutation for ADPKD. In addition, our findings emphasised the significance of functional analysis of UCVs and genotype\u2013phenotype correlation in ADPKD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.11622\/smedj.2021162","type":"journal-article","created":{"date-parts":[[2021,11,8]],"date-time":"2021-11-08T05:19:27Z","timestamp":1636348767000},"page":"229-234","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family"],"prefix":"10.4103","volume":"65","author":[{"given":"Junlin","family":"Zhang","sequence":"first","affiliation":[{"name":"Division of Nephrology, West China Hospital of Sichuan University, Chengdu, Sichuan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiting","family":"Wang","sequence":"additional","affiliation":[{"name":"Division of Nephrology, West China Hospital of Sichuan University, Chengdu, Sichuan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingwang","family":"Zhao","sequence":"additional","affiliation":[{"name":"Joy Orient Translational Medicine Research Center Co Ltd, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Liu","sequence":"additional","affiliation":[{"name":"Division of Nephrology, West China Hospital of Sichuan University, Chengdu, Sichuan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2021,11,8]]},"reference":[{"key":"R1-20260918","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1016\/S0140-6736(07)60601-1","article-title":"Autosomal dominant polycystic kidney disease","volume":"369","author":"Torres","year":"2007","journal-title":"Lancet"},{"key":"R2-20260918","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1159\/000449030","article-title":"The clinical manifestation and management of autosomal dominant polycystic kidney disease in China","volume":"2","author":"Xue","year":"2016","journal-title":"Kidney Dis (Basel)"},{"key":"R3-20260918","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1056\/NEJMra022161","article-title":"Polycystic kidney disease","volume":"350","author":"Wilson","year":"2004","journal-title":"N Engl J Med"},{"key":"R4-20260918","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1016\/0092-8674(94)90137-6","article-title":"The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. 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