{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T01:20:10Z","timestamp":1771550410834,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,11,26]],"date-time":"2013-11-26T00:00:00Z","timestamp":1385424000000},"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":["Nephrology"],"published-print":{"date-parts":[[2013,12]]},"abstract":"Abstract:<\/jats:title>S<\/jats:styled-content>enior\u2010L<\/jats:styled-content>\u00f8ken syndrome is a rare syndromic form of nephronophthisis that is associated with retinal dystrophy. Presently, seven genes (NPHP1<\/jats:styled-content>\u20106<\/jats:italic> and NPHP10<\/jats:styled-content><\/jats:italic>) have been associated with S<\/jats:styled-content>enior\u2010L<\/jats:styled-content>\u00f8ken syndrome. NPHP5<\/jats:styled-content><\/jats:italic> mutations are known to cause classical S<\/jats:styled-content>enior\u2010L<\/jats:styled-content>\u00f8ken syndrome. Here, we report two sisters (II<\/jats:styled-content>\u20104, II<\/jats:styled-content>\u20105) from a C<\/jats:styled-content>hinese H<\/jats:styled-content>an ethnic family who presented with classical S<\/jats:styled-content>enior\u2010L<\/jats:styled-content>\u00f8ken syndrome. Both affected sisters exhibited L<\/jats:styled-content>eber's congenital amaurosis and juvenile nephronophthisis that progressed to end\u2010stage renal disease by the age of 16 years and 9 months in patient II<\/jats:styled-content>\u20104 and 12 years and 9 months in patient II<\/jats:styled-content>\u20105. Sequence analysis showed a homozygous truncated mutation in NPHP5<\/jats:styled-content><\/jats:italic>, c.1090C<\/jats:styled-content>>T<\/jats:styled-content> (p.R364X<\/jats:styled-content>), in the patient II<\/jats:styled-content>\u20104. This mutation is predicted to introduce a new open reading frame that results in the truncation of the C<\/jats:styled-content>\u2010terminal 235 amino acids of nephrocystin\u20105 and its consequent loss of function. Both parents carried a single heterozygous mutation in the same position, and no homozygous deletion of NPHP1<\/jats:styled-content><\/jats:italic> was found in this pedigree.<\/jats:p>","DOI":"10.1111\/nep.12156","type":"journal-article","created":{"date-parts":[[2013,11,26]],"date-time":"2013-11-26T05:56:36Z","timestamp":1385445396000},"page":"838-842","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Clinical features and mutation of NPHP5<\/scp><\/i> in two C<\/scp>hinese siblings with S<\/scp>enior\u2010L<\/scp>\u00f8ken syndrome"],"prefix":"10.1111","volume":"18","author":[{"given":"Huajuan","family":"Tong","sequence":"first","affiliation":[{"name":"Department of Paediatrics the First Affiliated Hospital, Sun Yat\u2010Sen University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhihui","family":"Yue","sequence":"additional","affiliation":[{"name":"Department of Paediatrics the First Affiliated Hospital, Sun Yat\u2010Sen University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liangzhong","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Paediatrics the First Affiliated Hospital, Sun Yat\u2010Sen University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huiqin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Paediatrics the Third Affiliated Hospital, Sun Yat\u2010Sen University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiguang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Women and Children's Hospital of Guangdong Province Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiyan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Paediatrics the First Affiliated Hospital, Sun Yat\u2010Sen University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,11,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(61)90147-7"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.visres.2012.07.003"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2011.284"},{"key":"e_1_2_6_5_1","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1681\/ASN.V13175","article-title":"Identification of a gene locus for Senior\u2010Loken syndrome in the region of the nephronophthisis type 3 gene","volume":"13","author":"Omran H","year":"2002","journal-title":"J. Am. Soc. Nephrol."},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ki.5001768"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1053\/ajkd.2001.24514"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2001.059002434.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfq071"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1520"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2008050456"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.082552"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archophthalmol.2010.330"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.10-5221"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/421846"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fnep.12156","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.12156","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T18:03:40Z","timestamp":1696269820000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.12156"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,26]]},"references-count":14,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.1111\/nep.12156"],"URL":"https:\/\/doi.org\/10.1111\/nep.12156","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,26]]},"assertion":[{"value":"2013-08-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-11-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}