{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T01:29:58Z","timestamp":1789694998786,"version":"4.0.1"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,4,19]],"date-time":"2013-04-19T00:00:00Z","timestamp":1366329600000},"content-version":"vor","delay-in-days":108,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,1]]},"abstract":"<jats:p>Christensen JH, Kvistgaard H, Knudsen J, Shaikh G, Tolmie J, Cooke S, Pedersen S, Corydon TJ, Gregersen N, Rittig S. A novel deletion partly removing the <jats:italic>AVP<\/jats:italic> gene causes autosomal recessive inheritance of early\u2010onset neurohypophyseal diabetes insipidus.<\/jats:p><jats:p>Familial neurohypophyseal diabetes insipidus (FNDI) typically presents with age\u2010dependent penetrance and autosomal dominant inheritance caused by missense variations in one allele of the <jats:italic>AVP<\/jats:italic> gene encoding the arginine vasopressin (AVP) prohormone. We present the molecular genetic characteristics underlying an unusual form of FNDI occurring with very early onset and seemingly autosomal recessive inheritance. By DNA amplification and sequencing, we identified a novel variant allele of the <jats:italic>AVP<\/jats:italic> gene carrying a 10,396 base pair deletion involving the majority of the <jats:italic>AVP<\/jats:italic> gene as well as its regulatory sequences in the intergenic region between the <jats:italic>AVP<\/jats:italic> and the <jats:italic>OXT<\/jats:italic> gene, encoding the oxytocin prohormone. We found two chromosomes carrying the deletion in affected family members and one in unaffected family members suspected to transmit the deleted allele. Whole\u2010genome array analysis confirmed the results and excluded the presence of any additional major pathogenic abnormalities. The deletion is predicted to abolish the transcription of the <jats:italic>AVP<\/jats:italic> gene, thus the fact that family members heterozygous for the deletion remain healthy argues, in general, against haploinsufficiency as the pathogenic mechanism FNDI. Accordingly, our data is strong support to the prevailing idea that dominant inheritance of FNDI is due to a dominant\u2010negative effect exerted by variant AVP prohormone.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2011.01833.x","type":"journal-article","created":{"date-parts":[[2011,12,14]],"date-time":"2011-12-14T14:25:35Z","timestamp":1323872735000},"page":"44-52","source":"Crossref","is-referenced-by-count":19,"title":["A novel deletion partly removing the <i>AVP<\/i> gene causes autosomal recessive inheritance of early\u2010onset neurohypophyseal diabetes insipidus"],"prefix":"10.1111","volume":"83","author":[{"given":"JH","family":"Christensen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Kvistgaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Knudsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Shaikh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Tolmie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Cooke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Pedersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"TJ","family":"Corydon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Gregersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Rittig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,4,19]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-8529(18)30031-8"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2006.03.003"},{"key":"e_1_2_7_4_2","first-page":"107","article-title":"Identification of 13 new mutations in the vasopressin\u2010neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus","volume":"58","author":"Rittig S","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF03345549"},{"key":"e_1_2_7_6_2","first-page":"783.","article-title":"Gene symbol: AVP. 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