{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T14:08:03Z","timestamp":1765807683270,"version":"3.41.2"},"reference-count":45,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T00:00:00Z","timestamp":1559088000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005090","name":"Beijing Nova Program","doi-asserted-by":"publisher","award":["Z161100004916129"],"award-info":[{"award-number":["Z161100004916129"]}],"id":[{"id":"10.13039\/501100005090","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81830019"],"award-info":[{"award-number":["81830019"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009580","name":"General Hospital of People\u2019s Liberation Army","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009580","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":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Alport Syndrome (AS) is a progressive hereditary glomerular disease. It is often accompanied by sensorineural hearing loss and ocular abnormalities and can sometimes develop into end stage renal disease (ESRD), which is caused by mutations in the genes encoding the collagen type IV family of proteins.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This study analyzed the association between the clinical data of seven AS families and genes and the disease progression of different mutation types, including <jats:italic>COL4A3<\/jats:italic> (OMIM 120070)\uff0c<jats:italic>COL4A4<\/jats:italic> (OMIM 120131), and <jats:italic>COL4A5<\/jats:italic> (OMIM303630).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of\u00a0six new pathogenic mutation sites, one complex heterozygous mutation at <jats:italic>COL4A3,<\/jats:italic> and a combined mutation of <jats:italic>COL4A5 and INF2<\/jats:italic> (OMIM 610982) were identified in this study. It was revealed that the clinical manifestations of X\u2010linked AS caused by mutations in the <jats:italic>COL4A5<\/jats:italic> gene were more severe in males than in females. In addition, the difference in patient phenotype can be attributed to the location of gene mutations affecting the protein domain or functional domain. Our data suggested that the gene deletion and nonsense mutations had a high risk for progression to ESRD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our results revealed the spectrum of type IV collagen genes, which contribute to the enrichment of database resources and has important implications in the diagnosis, prognosis, and guiding treatment of AS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.741","type":"journal-article","created":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T06:54:28Z","timestamp":1559199268000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Genotype\u2010phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6785-7717","authenticated-orcid":false,"given":"Shunlai","family":"Shang","sequence":"first","affiliation":[{"name":"Department of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology Beijing China"},{"name":"School of Medicine Nankai University Tianjin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6462-7991","authenticated-orcid":false,"given":"Tao","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases Chinese PLA General 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