{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T15:03:37Z","timestamp":1790262217615,"version":"4.1.0"},"reference-count":16,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2009,10,8]],"date-time":"2009-10-08T00:00:00Z","timestamp":1254960000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2009,10,8]],"date-time":"2009-10-08T00:00:00Z","timestamp":1254960000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron Physiol"],"abstract":"<i>Background\/Aims:<\/i> Mutations in the type 2 vasopressin receptor gene <i>(AVPR2)<\/i> underlie X-linked recessive nephrogenic diabetes insipidus (NDI). Here, we report on a family with a mutation in AVPR2, c.262G>A (p.V88M). This recurrently identified mutation was previously shown to abolish <i>AVPR2<\/i> function, yet in some affected members, urine osmolalities of up to 570 mosm\/kg were observed. We detail the variable clinical phenotype and investigate its molecular basis. <i>Methods:<\/i> Retrospective analysis of clinical data and in vitro assessment of wild-type and V88M-mutant receptors. <i>Results:<\/i> Clinical data were available on 6 patients. Four of these demonstrated a substantial increase in urinary concentration after 1-desamino[8-<i>D<\/i>-arginine] vasopressin, consistent with partial NDI, while 2 did not respond. In vitro analysis revealed a reduced cell surface expression and decreased binding affinity for arginine-vasopressin of the mutant receptor, leading to blunted signaling activity. Treatment with the pharmacological chaperone SR121463 enhanced cell surface expression. <i>Conclusion:<\/i> The V88M mutation is associated with phenotypical diversity, which may be explained by the fact that both the expression level and the hormone-binding affinity are affected by the mutation. Our results provide a rational basis for treatment trials with vasopressin analogues in combination with pharmacologic chaperones in patients with this recurrently identified mutation.<\/jats:p>","DOI":"10.1159\/000245059","type":"journal-article","created":{"date-parts":[[2009,10,7]],"date-time":"2009-10-07T11:08:20Z","timestamp":1254913700000},"page":"p1-p10","source":"Crossref","is-referenced-by-count":49,"title":["Vasopressin Type 2 Receptor V88M Mutation: Molecular Basis of Partial and Complete Nephrogenic Diabetes Insipidus"],"prefix":"10.1159","volume":"114","author":[{"given":"Detlef","family":"Bockenhauer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Carpentier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Driss","family":"Rochdi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"van\u2019t Hoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Billy","family":"Breton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Bernier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Bouvier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel G.","family":"Bichet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2009,10,8]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093%2Fqjmed%2Fhcn119"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002%2Fjcp.21552"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1152%2Fajprenal.00491.2005"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1681%2FASN.2005080854"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210%2Fme.2004-0080"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI8688"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1124%2Fmol.108.048884"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1177%2F1087057108324032"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M700577200"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210%2Fme.8.7.886"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.bjp.0702220"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.82.10.3434"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1146%2Fannurev.physiol.63.1.607"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1152%2Fajprenal.00404.2004"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1152%2Fajprenal.00119.2004"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1159%2F000240695"}],"container-title":["Nephron Physiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/245059","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/245059","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T21:30:01Z","timestamp":1745443801000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000245059"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,10,8]]},"references-count":16,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2010,2,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000245059","archive":["Portico"],"relation":{},"ISSN":["1660-2137"],"issn-type":[{"value":"1660-2137","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,10,8]]}}}