{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:23:15Z","timestamp":1791274995913,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,3,8]],"date-time":"2018-03-08T00:00:00Z","timestamp":1520467200000},"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":[[2018,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>The <jats:italic>TTC21B<\/jats:italic> gene is now known as causative of nephronophthisis\u2010related ciliopathies (NPHP\u2010RC). We reported two Chinese paediatric cases with end\u2010stage renal disease and other phenotypes caused by the <jats:italic>TTC21B<\/jats:italic> gene mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The clinical features of Chinese paediatric cases with NPHP\u2010RC were summarized. Mutation analysis of the <jats:italic>TTC21B<\/jats:italic> gene was performed using next\u2010generation sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The two cases both had nephrotic proteinuria, renal failure, hypertension and abnormal liver function (or hepatic fibrosis). One case also presented situs inversus and short phalanges. They developed end\u2010stage renal disease (ESRD) at 1\u00a0year old and 8\u00a0years old, respectively, when renal pathology both showed focal segmental glomerular sclerosis (FSGS) with tubulointerstitial lesions including interstitial fibrosis and atrophic tubules. Three <jats:italic>novel<\/jats:italic> disease\u2010causing <jats:italic>TTC21B<\/jats:italic> mutations were identified. One case carried homozygous mutation c.2211\u00a0+\u00a03A\u00a0&gt;\u00a0G, while the other case carried compound heterozygous mutations c.1552\u00a0T\u00a0&gt;\u00a0C (p.C518R) and c.1456dupA (p.R486KfsX22).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Mutations in <jats:italic>TTC21B<\/jats:italic> cause a range of ciliopathy phenotypes in humans. We identified 3 <jats:italic>novel TTC21B<\/jats:italic> mutations in two Chinese paediatric cases that both presented end\u2010stage renal disease and other different features. This is the first <jats:italic>TTC21B<\/jats:italic> mutations ever reported in China.<\/jats:p><\/jats:sec>","DOI":"10.1111\/nep.13008","type":"journal-article","created":{"date-parts":[[2017,1,26]],"date-time":"2017-01-26T05:47:36Z","timestamp":1485409656000},"page":"371-376","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Mutations in <i>TTC21B<\/i> cause different phenotypes in two childhood cases in China"],"prefix":"10.1111","volume":"23","author":[{"given":"Hongwen","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Pediatric Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baige","family":"Su","sequence":"additional","affiliation":[{"name":"Department of Pediatric Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyu","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huijie","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Pediatric Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Pediatric Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Pediatric Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,3,8]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1297-0"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2011.284"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000194"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-012-2259-9"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2015.03.005"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1010172"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2013.261"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2013101126"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.756"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep31544"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-010-1495-0"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfv355"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12550"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.082552"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfv453"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.08.023"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fnep.13008","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.13008","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T20:07:00Z","timestamp":1695672420000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.13008"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,8]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,4]]}},"alternative-id":["10.1111\/nep.13008"],"URL":"https:\/\/doi.org\/10.1111\/nep.13008","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,3,8]]},"assertion":[{"value":"2016-12-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-01-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-03-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}