{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T01:10:47Z","timestamp":1772500247926,"version":"3.50.1"},"reference-count":33,"publisher":"The Endocrine Society","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2002,7,1]]},"abstract":"<jats:p>The autosomal dominant form of familial neurohypophyseal diabetes insipidus (adFNDI) has been linked to 40 different mutations of the gene encoding the vasopressin-neurophysin II (AVP-NPII) precursor. All of these mutations have been located in either the signal peptide or neurophysin II moiety. We now report a three-generation Turkish kindred in which severe adFNDI cosegregates with a novel missense mutation in the part of the AVP-NPII gene encoding the AVP moiety. This mutation (T\u2192C at position 285 in the genomic sequence) was found in only one allele and predicts a substitution of histidine for tyrosine at position 2 in AVP. Like other adFNDI mutations, this substitution is expected to impair folding and processing of the precursor, in this case by interfering with normal binding of the AVP and NPII moieties. It is associated clinically with inability to concentrate urine during fluid deprivation, a greater than 80% deficiency of AVP secretion, and absence of the posterior pituitary bright spot on magnetic resonance imaging. These findings are consistent with the hypothesis that mutations in the AVP-NPII gene cause adFNDI by directing the production of a folding incompetent precursor that prevents the expression of the normal allele via a cytotoxic effect on the magnocellular neurons.<\/jats:p>","DOI":"10.1210\/jcem.87.7.8677","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T17:08:23Z","timestamp":1389200903000},"page":"3351-3355","source":"Crossref","is-referenced-by-count":27,"title":["Autosomal Dominant Neurohypophyseal Diabetes Insipidus due to Substitution of Histidine for Tyrosine2 in the Vasopressin Moiety of the Hormone Precursor"],"prefix":"10.1210","volume":"87","author":[{"given":"S\u00f8ren","family":"Rittig","sequence":"first","affiliation":[{"name":"Department of Pediatrics (S.R., C.S.), Aarhus DK-8200, Denmark;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte","family":"Siggaard","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (S.R., C.S.), Aarhus DK-8200, Denmark;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Metin","family":"Ozata","sequence":"additional","affiliation":[{"name":"Department of Endocrinology (M.O., I.Y.), Gulhane School of Medicine, 06019 Ankara, Turkey;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilhan","family":"Yetkin","sequence":"additional","affiliation":[{"name":"Department of Endocrinology (M.O., I.Y.), Gulhane School of Medicine, 06019 Ankara, Turkey;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels","family":"Gregersen","sequence":"additional","affiliation":[{"name":"Research Unit for Molecular Medicine (N.G.), Skejby University Hospital, Aarhus DK-8200, Denmark;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erling B.","family":"Pedersen","sequence":"additional","affiliation":[{"name":"Department of Medicine (E.B.P.), Holstebro Hospital, DK-7500 Holstebro, Denmark;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary L.","family":"Robertson","sequence":"additional","affiliation":[{"name":"Department of Medicine (G.L.R.), Northwestern University Medical School, Chicago, Illinois 60611-3008"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","reference":[{"key":"2020071617262222800_R1","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/S1043-2760(97)00157-4","article-title":"Genetic basis of familial neurohypophyseal diabetes insipidus.","volume":"8","author":"Hansen","year":"1997","journal-title":"Trends Endocrinol Metab"},{"key":"2020071617262222800_R2","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1210\/jcem.77.3.8370682","article-title":"Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation.","volume":"77","author":"McLeod","year":"1993","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617262222800_R3","doi-asserted-by":"crossref","first-page":"503","DOI":"10.7326\/0003-4819-63-3-503","article-title":"Hereditary diabetes insipidus: a case report with autopsy findings.","volume":"63","author":"Braverman","year":"1965","journal-title":"Ann Intern Med"},{"key":"2020071617262222800_R4","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1093\/brain\/90.3.707","article-title":"Hereditary and idiopathic types of diabetes insipidus.","volume":"90","author":"Green","year":"1967","journal-title":"Brain"},{"key":"2020071617262222800_R5","first-page":"105","article-title":"A novel AVP-neurophysin gene mutation in familial neurohypophyseal diabetes insipidus presenting with nocturnal enuresis.","volume":"2","author":"Goking","year":"2001","journal-title":"J Endocr Genet"},{"key":"2020071617262222800_R6","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1006\/mgme.2000.3117","article-title":"A missense mutation encoding cys(67)\u2014&gt; 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