{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T11:22:32Z","timestamp":1782300152961,"version":"3.54.5"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,1,28]],"date-time":"2016-01-28T00:00:00Z","timestamp":1453939200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81470913"],"award-info":[{"award-number":["81470913"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>The present study was designed to explore mutations of<jats:styled-content style=\"fixed-case\"><jats:italic>NPHP2<\/jats:italic><\/jats:styled-content>and<jats:styled-content style=\"fixed-case\"><jats:italic>NPHP3<\/jats:italic><\/jats:styled-content>and clinical features in 18<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>hinese infantile nephronophthisis (<jats:styled-content style=\"fixed-case\">NPHP<\/jats:styled-content>) patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Patients were subjected to screen for mutations in both<jats:styled-content style=\"fixed-case\"><jats:italic>NPHP2<\/jats:italic><\/jats:styled-content>and<jats:styled-content style=\"fixed-case\"><jats:italic>NPHP3<\/jats:italic><\/jats:styled-content>, and clinical data were collected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eighteen patients from 17 families were included in this study. Eight of 17 (47.1%) patients detected were identified to have mutations in<jats:styled-content style=\"fixed-case\"><jats:italic>NPHP3<\/jats:italic><\/jats:styled-content>, but none had a mutation in<jats:styled-content style=\"fixed-case\"><jats:italic>NPHP2<\/jats:italic><\/jats:styled-content>. Of the patients with<jats:styled-content style=\"fixed-case\"><jats:italic>NPHP3<\/jats:italic><\/jats:styled-content>mutations, four had compound heterozygous mutations, and the other four harboured single heterozygous mutations. Ten of the<jats:styled-content style=\"fixed-case\"><jats:italic>NPHP3<\/jats:italic><\/jats:styled-content>mutations were novel. Low molecular weight proteinuria was observed in all 16 detected patients. Renal histology were available in seven children, five patients showed infantile type<jats:styled-content style=\"fixed-case\">NPHP<\/jats:styled-content>features, and the other two patients from the same family showed juvenile type<jats:styled-content style=\"fixed-case\">NPHP<\/jats:styled-content>features. Liver involvement was observed in all patients with<jats:styled-content style=\"fixed-case\"><jats:italic>NPHP3<\/jats:italic><\/jats:styled-content>mutations and congenital heart disease in two patients harbouring<jats:styled-content style=\"fixed-case\"><jats:italic>NPHP3<\/jats:italic><\/jats:styled-content>mutation of c.2369<jats:styled-content style=\"fixed-case\">T<\/jats:styled-content>\u2009&gt;\u2009<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>(p.<jats:styled-content style=\"fixed-case\">L790P<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In this group of infantile<jats:styled-content style=\"fixed-case\">NPHP<\/jats:styled-content>patients, mutations of<jats:styled-content style=\"fixed-case\"><jats:italic>NPHP3<\/jats:italic><\/jats:styled-content>were prevalent, whereas mutation of<jats:styled-content style=\"fixed-case\"><jats:italic>NPHP2<\/jats:italic><\/jats:styled-content>was absent. Genotype to phenotype correlations were observed in patients with<jats:styled-content style=\"fixed-case\"><jats:italic>NPHP3<\/jats:italic><\/jats:styled-content>mutations and all patients with<jats:styled-content style=\"fixed-case\"><jats:italic>NPHP3<\/jats:italic><\/jats:styled-content>mutations showed renal\u2010hepatic phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1111\/nep.12563","type":"journal-article","created":{"date-parts":[[2015,7,17]],"date-time":"2015-07-17T08:47:07Z","timestamp":1437122827000},"page":"209-216","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["High mutation rate of<scp><i>NPHP3<\/i><\/scp>in 18<scp>C<\/scp>hinese infantile nephronophthisis patients"],"prefix":"10.1111","volume":"21","author":[{"given":"Liangzhong","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Pediatrics Children's Kidney Diseases Center Sun Yat\u2010sen University Guangzhou 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