{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T18:16:30Z","timestamp":1783016190225,"version":"3.54.6"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T00:00:00Z","timestamp":1780012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T00:00:00Z","timestamp":1780012800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Central diabetes insipidus, or arginine vasopressin deficiency (AVP\u2010D), is a rare disorder caused by insufficient release of antidiuretic hormone from the pituitary gland. The disease is characterised by severe polyuria and polydipsia, which, in rare cases, can be caused by variants in the\n                    <jats:italic>AVP<\/jats:italic>\n                    gene. The aim of the present study was to identify the genetic cause of AVP\u2010D in two families and compile and discuss an updated and complete catalogue of variants in\n                    <jats:italic>AVP<\/jats:italic>\n                    associated with AVP\u2010D. Two Danish families with autosomal dominant inheritance of symptoms indicating AVP\u2010D were included, and probands underwent an arginine\u2010stimulated copeptin test. Genetic testing included direct sequencing of the coding regions of\n                    <jats:italic>AVP<\/jats:italic>\n                    . HGMD professional, ClinVar, and literature mining combined with expert\u2010assisted filtering and curation were applied to compile all pathogenic variants in\n                    <jats:italic>AVP<\/jats:italic>\n                    reported until now. Genetic analysis of the two probands, both of which had abnormally low levels of arginine\u2010stimulated copeptin, and selected family members revealed co\u2010segregation of AVP\u2010D and heterozygosity for a novel pathogenic missense variant in\n                    <jats:italic>AVP<\/jats:italic>\n                    (c.122G&gt;A,\n                    <jats:italic>p<\/jats:italic>\n                    .(Cys41Tyr)). This variant was included in an updated and curated list of 110 pathogenic\n                    <jats:italic>AVP<\/jats:italic>\n                    variants associated with AVP\u2010D. These findings expand the known mutational spectrum of\n                    <jats:italic>AVP<\/jats:italic>\n                    and provide a consolidated resource to support clinical interpretation and future genotype\u2013phenotype studies.\n                  <\/jats:p>","DOI":"10.1111\/cge.70183","type":"journal-article","created":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T10:17:21Z","timestamp":1780049841000},"page":"203-209","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Insights Into\n                    <scp>AVP<\/scp>\n                    Deficiency: Identification of a Novel\n                    <scp>\n                      <i>AVP<\/i>\n                    <\/scp>\n                    Variant and Compilation of a Curated Catalogue of Pathogenic Variants"],"prefix":"10.1111","volume":"110","author":[{"given":"Jennifa","family":"Joseph","sequence":"first","affiliation":[{"name":"Department of Biomedicine Aarhus University  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esben","family":"S\u00f8ndergaard","sequence":"additional","affiliation":[{"name":"Steno Diabetes Center Aarhus Aarhus University Hospital  Aarhus Denmark"},{"name":"Department of Clinical Medicine Aarhus University  Aarhus Denmark"},{"name":"Department of Endocrinology and Internal Medicine Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6552-5340","authenticated-orcid":false,"given":"Sine","family":"Knorr","sequence":"additional","affiliation":[{"name":"Steno Diabetes Center Aarhus Aarhus University Hospital  Aarhus Denmark"},{"name":"Department of Clinical Medicine Aarhus University  Aarhus Denmark"},{"name":"Department of Endocrinology and Internal Medicine Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane Hagelskj\u00e6r","family":"Knudsen","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine Aarhus University  Aarhus Denmark"},{"name":"Department of Paediatric and Adolescent Medicine Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00f8ren","family":"Rittig","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine Aarhus University  Aarhus Denmark"},{"name":"Department of Paediatric and Adolescent Medicine Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0009-2991","authenticated-orcid":false,"given":"Jane Hvarregaard","family":"Christensen","sequence":"additional","affiliation":[{"name":"Department of Biomedicine Aarhus University  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,29]]},"reference":[{"issue":"2","key":"e_1_2_8_2_1","article-title":"Diabetes Insipidus: Pathogenesis, Diagnosis, and Clinical Management","volume":"13","author":"Mutter C. M.","year":"2021","journal-title":"Cureus"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-019-0103-2"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgac381"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2012-1044"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-8529(05)70207-3"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/jne.13233"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.100"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2012.04417.x"},{"issue":"1","key":"e_1_2_8_10_1","article-title":"Diabetes Insipidus: A Pragmatic Approach to Management","volume":"13","author":"Priya G.","year":"2021","journal-title":"Cureus"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(19)31255-3"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"issue":"4","key":"e_1_2_8_13_1","article-title":"Paradoxical Anti\u2010Diuretic Effects of Thiazide and Thiazide\u2010Like Diuretics in Diabetes Insipidus: A Systematic Review","volume":"17","author":"Perrine A. 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