{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T09:17:10Z","timestamp":1791191830231,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,9,11]],"date-time":"2012-09-11T00:00:00Z","timestamp":1347321600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2012,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Familial neurohypophyseal diabetes insipidus (<jats:styled-content style=\"fixed-case\">FNDI<\/jats:styled-content>) is mainly an autosomal dominant inherited disorder presenting with severe polydipsia and polyuria in early childhood. In this study, we aimed to determine the molecular genetics and clinical characteristics of a large Swedish\u2013Norwegian family presenting with very late\u2010onset autosomal dominant <jats:styled-content style=\"fixed-case\">FNDI<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients<\/jats:title><jats:p>Six probands with a history of developing polyuria and polydipsia during adolescence were studied.<\/jats:p><\/jats:sec><jats:sec><jats:title>Measurements<\/jats:title><jats:p>Information on family demography was collected by personal interview with family members. The genetic cause of <jats:styled-content style=\"fixed-case\">FNDI<\/jats:styled-content> was identified by <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequencing analysis of the coding regions of the <jats:italic>AVP<\/jats:italic> gene. The clinical characteristics were determined by the measurement of basal urine production and osmolality as well as by measurements of concurrent levels of plasma <jats:styled-content style=\"fixed-case\">AVP<\/jats:styled-content>, plasma osmolality, and urine osmolality during fluid deprivation and bolus injection of <jats:styled-content style=\"fixed-case\">DDAVP<\/jats:styled-content>. The integrity of the neurohypophysis was evaluated by magnetic resonance imaging.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The mean age of encountering the first clinical symptoms in the family was 14\u00b78\u00a0years (range 3\u201330\u00a0years) (<jats:italic>n<\/jats:italic>\u00a0=\u00a017). All six affected subjects investigated were heterozygous for a novel mutation in the <jats:italic>AVP<\/jats:italic> gene (g.1848C&gt;T) predicting a p.Pro84Leu substitution in the <jats:styled-content style=\"fixed-case\">AVP<\/jats:styled-content> precursor protein. We found partial deficiency in evoked <jats:styled-content style=\"fixed-case\">AVP<\/jats:styled-content> secretion during fluid deprivation in one subject and complete deficiency in another. The pituitary bright spot was absent in all six affected subjects studied.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A novel mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">AVP<\/jats:styled-content><\/jats:italic> gene predicted to cause a neurophysin II dimerization defect is causing surprisingly late onset of FNDI in a large, six generation, Swedish\u2013Norwegian family. The mutation is associated with both complete and partial deficiency in evoked <jats:styled-content style=\"fixed-case\">AVP<\/jats:styled-content> secretion during fluid deprivation in patients who have suffered from <jats:styled-content style=\"fixed-case\">FNDI<\/jats:styled-content> for decades.<\/jats:p><\/jats:sec>","DOI":"10.1111\/j.1365-2265.2012.04417.x","type":"journal-article","created":{"date-parts":[[2012,4,23]],"date-time":"2012-04-23T13:23:39Z","timestamp":1335187419000},"page":"586-592","source":"Crossref","is-referenced-by-count":10,"title":["Late\u2010onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene"],"prefix":"10.1111","volume":"77","author":[{"given":"Johan","family":"Jendle","sequence":"first","affiliation":[{"name":"School of Health and Medical Sciences \u00d6rebro University \u00d6rebro Sweden"},{"name":"Endocrine and Diabetes Center Karlstad Hospital Karlstad Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane H.","family":"Christensen","sequence":"additional","affiliation":[{"name":"Department of Biomedicine Aarhus University Aarhus Denmark"},{"name":"Department of Pediatrics Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helene","family":"Kvistgaard","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niels","family":"Gregersen","sequence":"additional","affiliation":[{"name":"Research Unit for Molecular Medicine Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00f8ren","family":"Rittig","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,9,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.100"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/295299a0"},{"key":"e_1_2_6_4_1","first-page":"S20","article-title":"Physiology of ADH secretion","volume":"21","author":"Robertson G.L.","year":"1987","journal-title":"Kidney International. 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