{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,12]],"date-time":"2025-06-12T07:52:48Z","timestamp":1749714768487,"version":"3.40.4"},"reference-count":26,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2020]]},"abstract":"<jats:p>Loss of function of arginine vasopressin receptor 2 (AVPR2) may affect the recognition and binding of arginine vasopressin (AVP) which, in turn, may prevent the activation of Gs\/adenylate cyclase and reduce the reabsorption of water by renal tubules and combined tubes. Finally, the organism may suffer from nephrogenic diabetes insipidus (NDI), a kind of kidney disorder featured by polyuria and polydipsia, due to a break of water homeostasis. In this study, we enrolled a Chinese family with polyuria and polydipsia. The proband presented abnormal fluid intake and excessive urine output. A water deprivation and AVP stimulation test further indicated that this patient had NDI. By sequencing known causative genes for diabetes insipidus, we identified a novel mutation in &lt;i&gt;AVPR2&lt;\/i&gt; (c.547G&gt;A; p.V183M) in the family. This mutation, located in a conserved site of AVPR2 and predicted to be disease-causing by informatics programs, was absent in our 200 controls and other public databases. Our study not only further confirms the clinical diagnosis, but also expands the spectrum of&lt;i&gt; AVPR2&lt;\/i&gt; mutations and contributes to genetic diagnosis and counseling of patients with NDI.<\/jats:p>","DOI":"10.1159\/000507035","type":"journal-article","created":{"date-parts":[[2020,3,27]],"date-time":"2020-03-27T22:00:50Z","timestamp":1585346450000},"page":"130-134","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a Novel Arginine Vasopressin Receptor 2 Mutation (p.V183M) in a Chinese Family with Nephrogenic Diabetes Insipidus"],"prefix":"10.1159","volume":"11","author":[{"given":"Ji-Shi","family":"Liu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie-Yuan","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ran","family":"Du","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen-Yu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang-Liang","family":"Fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2020,3,28]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2016.02.010"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2015.89"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1089\/gte.2006.10.157"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-013-2689-z"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.0097"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-019-0103-2"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2015.04.013"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2015.181"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1515\/cclm-2018-0578"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2017.02.007"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1159\/000480009"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-018-3132-z"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2018.09.006"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1159\/000075241"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18112385"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2016.02.012"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg509"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038\/ng1092-103"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-015-2684-4"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2017.01.002"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMicm1013847"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.10.028"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000015348"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/507035","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/507035","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:57:04Z","timestamp":1745423824000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000507035"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":26,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,7,6]]},"published-print":{"date-parts":[[2020,7,9]]}},"URL":"https:\/\/doi.org\/10.1159\/000507035","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2020]]}}}