{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T23:22:37Z","timestamp":1789428157589,"version":"build-2803163510"},"reference-count":54,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,10,20]],"date-time":"2022-10-20T00:00:00Z","timestamp":1666224000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2020A1515010241"],"award-info":[{"award-number":["2020A1515010241"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002402","name":"Sun Yat-sen University","doi-asserted-by":"publisher","award":["2002B60118"],"award-info":[{"award-number":["2002B60118"]}],"id":[{"id":"10.13039\/501100002402","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100021171","name":"Basic and Applied Basic Research Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2019A1515010992"],"award-info":[{"award-number":["2019A1515010992"]}],"id":[{"id":"10.13039\/501100021171","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2022,12]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Nephronophthisis type 12 (NPHP 12) is a rare cilia\u2010related cystic kidney disease, caused by TTC21B<\/jats:italic> mutation, mainly involving the kidneys, which generally occurs in children. Our study aimed to illustrate its clinical, pathological and genetic characteristics by reporting an adult\u2010onset case of NPHP 12 caused by a single heterozygous nonsense mutation of TTC21B<\/jats:italic> confirmed by renal histology and whole exome sequencing and reviewing related literature with a comparative analysis of the clinical features of each case. It will further increase the recognition of this rare kidney genetic disease, which sometimes can manifest as an adult disease.<\/jats:p><\/jats:sec>Results<\/jats:title>A 33\u2010years\u2010old man showed a chronic disease course, and he exhibited slight renal dysfunction (CKD stage 3, eGFR\u00a0=\u00a049\u2009ml\/[min* 1.73\u2009m2]) with renal tubular proteinuria, without any extrarenal manifestations, congenital malformation history of kidney disease, or family hereditary disease. Renal histological findings showed substantial interstitial fibrosis with some irregular and tortuous tubules with complex branches and segmental thickening and splitting of the tubular basement membrane. The patient was diagnosed with chronic interstitial nephritis for an unknown reason clinically. Further genetic analysis revealed a single heterozygous nonsense mutation in the TTC21B<\/jats:italic> gene and NPHP 12 was diagnosed finally.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>A single heterozygous mutation in the TTC21B<\/jats:italic> gene may cause atypical NPHP12, which had a relatively later onset and milder clinical symptoms without developmental abnormalities. Therefore, for unexplained adult\u2010onset chronic interstitial nephritis with unusual changes of renal tubules and interstitial fibrosis, even without a clear history of hereditary kidney disease, genetic testing is still recommended. The correct diagnosis of this rare adult\u2010onset hereditary nephropathy can avoid unnecessary treatment.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2076","type":"journal-article","created":{"date-parts":[[2022,10,20]],"date-time":"2022-10-20T07:38:00Z","timestamp":1666251480000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A single heterozygous nonsense mutation in the TTC21B<\/i> gene causes adult\u2010onset nephronophthisis 12: A case report and review of literature"],"prefix":"10.1002","volume":"10","author":[{"given":"Dan","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Nephrology The First Affiliated Hospital, Sun Yat\u2010sen University Guangzhou China"},{"name":"NHC Key Laboratory of Clinical Nephrology (Sun Yat\u2010sen University) and Guangdong Provincial Key Laboratory of Nephrology Sun Yat\u2010sen University Guangzhou 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Nephrology The First Affiliated Hospital, Sun Yat\u2010sen University Guangzhou China"},{"name":"NHC Key Laboratory of Clinical Nephrology (Sun Yat\u2010sen University) and Guangdong Provincial Key Laboratory of Nephrology Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Nephrology The First Affiliated Hospital, Sun Yat\u2010sen University Guangzhou China"},{"name":"NHC Key Laboratory of Clinical Nephrology (Sun Yat\u2010sen University) and Guangdong Provincial Key Laboratory of Nephrology Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenfang","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Nephrology The First Affiliated Hospital, Sun Yat\u2010sen University Guangzhou China"},{"name":"Department of Pathology The First Affiliated Hospital, Sun 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